Variant: rs147001633 

    present in Gene: DNMT3A
    present in Chromosome: 2
    Position on Chromosome: 25234373
    Alleles of this Variant: C/A;G;T

rs147001633 in DNMT3A gene and Adenocarcinoma of lung (disorder) PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs147001633 in DNMT3A gene and Dysmorphic features PMID 10555141 1999 DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development.

PMID 10433969 1999 Cloning, expression and chromosome locations of the human DNMT3 gene family.

PMID 10647011 1999 Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.

PMID 28667884 2017 Exome sequencing reveals DNMT3A and ASXL1 variants associate with progression of chronic myeloid leukemia after tyrosine kinase inhibitor therapy.

PMID 28941052 2017 The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.

PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

PMID 27991732 2017 Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.

PMID 12359337 2002 The human DNA methyltransferases DNMT3A and DNMT3B have two types of promoters with different CpG contents.

PMID 12138111 2002 A novel Dnmt3a isoform produced from an alternative promoter localizes to euchromatin and its expression correlates with active de novo methylation.

PMID 10325416 1999 The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors.

PMID 28386848 2018 Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing.

PMID 11399089 2001 Enzymatic properties of recombinant Dnmt3a DNA methyltransferase from mouse: the enzyme modifies DNA in a non-processive manner and also methylates non-CpG [correction of non-CpA] sites.

PMID 2717398 1989 Predictive motifs derived from cytosine methyltransferases.

PMID 15739230 2005 DNA methyltransferase expression in the mouse germ line during periods of de novo methylation.

PMID 24614070 2014 Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

PMID 27701732 2017 Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome.

PMID 15063176 2004 Windows for sex-specific methylation marked by DNA methyltransferase expression profiles in mouse germ cells.

PMID 15672446 2005 Dynamic expression of de novo DNA methyltransferases Dnmt3a and Dnmt3b in the central nervous system.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 26866722 2016 Tatton-Brown-Rahman syndrome due to 2p23 microdeletion.

PMID 21844811 2011 An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

PMID 21067377 2010 DNMT3A mutations in acute myeloid leukemia.

PMID 20228804 2010 Dnmt1 and Dnmt3a maintain DNA methylation and regulate synaptic function in adult forebrain neurons.

PMID 20651149 2010 Dnmt3a-dependent nonpromoter DNA methylation facilitates transcription of neurogenic genes.

PMID 1423634 1992 A targeting sequence directs DNA methyltransferase to sites of DNA replication in mammalian nuclei.

PMID 12575993 2003 The Tudor domain 'Royal Family': Tudor, plant Agenet, Chromo, PWWP and MBT domains.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 17878930 2007 DNA methylation in the human cerebral cortex is dynamically regulated throughout the life span and involves differentiated neurons.

PMID 16501171 2006 Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome.

PMID 20729844 2010 Dnmt3a regulates emotional behavior and spine plasticity in the nucleus accumbens.

PMID 17445268 2007 Coordinate regulation of DNA methyltransferase expression during oogenesis.

PMID 21507354 2011 The DNMT3 family of mammalian de novo DNA methyltransferases.

PMID 16725135 2006 Dynamic expression of DNMT3a and DNMT3b isoforms during male germ cell development in the mouse.

PMID 16357870 2006 The Polycomb group protein EZH2 directly controls DNA methylation.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

rs147001633 in DNMT3A gene and Leukemia, Myelocytic, Acute PMID 22744846 2012 Three heterozygous mutations (p.R882S, p.R882C and p.R882H) were identified in three of 61 AML patients, whereas none of patients with other hematological disorders harbored any mutation.

PMID 22160010 2011 Impact of genetic features on treatment decisions in AML.

PMID 22898540 2012 Cancer stem cells: Tracing clones.

PMID 21067377 2010 DNMT3A mutations in acute myeloid leukemia.

PMID 22898539 2012 The role of mutations in epigenetic regulators in myeloid malignancies.

PMID 21518476 2011 [Analysis of DNMT3a gene mutations in acute myelogenous leukemia].

PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

PMID 22898541 2012 Retroviral oncogenes: a historical primer.

PMID 24606448 2014 Molecular evaluation of DNMT3A and IDH1/2 gene mutation: frequency, distribution pattern and associations with additional molecular markers in normal karyotype Indian acute myeloid leukemia patients.

PMID 24656771 2014 AML cells with the R882H mutation have severely reduced de novo methyltransferase activity and focal hypomethylation at specific CpGs throughout AML cell genomes.

rs147001633 in DNMT3A gene and MYELODYSPLASTIC SYNDROME PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs147001633 in DNMT3A gene and Multiple congenital anomalies PMID 24614070 2014 Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 28386848 2018 Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing.

PMID 27991732 2017 Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 26866722 2016 Tatton-Brown-Rahman syndrome due to 2p23 microdeletion.

PMID 21067377 2010 DNMT3A mutations in acute myeloid leukemia.

PMID 21844811 2011 An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

PMID 20651149 2010 Dnmt3a-dependent nonpromoter DNA methylation facilitates transcription of neurogenic genes.

PMID 2717398 1989 Predictive motifs derived from cytosine methyltransferases.

PMID 15063176 2004 Windows for sex-specific methylation marked by DNA methyltransferase expression profiles in mouse germ cells.

PMID 15672446 2005 Dynamic expression of de novo DNA methyltransferases Dnmt3a and Dnmt3b in the central nervous system.

PMID 16725135 2006 Dynamic expression of DNMT3a and DNMT3b isoforms during male germ cell development in the mouse.

PMID 27701732 2017 Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome.

PMID 20729844 2010 Dnmt3a regulates emotional behavior and spine plasticity in the nucleus accumbens.

PMID 16357870 2006 The Polycomb group protein EZH2 directly controls DNA methylation.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 17445268 2007 Coordinate regulation of DNA methyltransferase expression during oogenesis.

PMID 1423634 1992 A targeting sequence directs DNA methyltransferase to sites of DNA replication in mammalian nuclei.

PMID 16501171 2006 Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome.

PMID 15739230 2005 DNA methyltransferase expression in the mouse germ line during periods of de novo methylation.

PMID 28941052 2017 The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.

PMID 20228804 2010 Dnmt1 and Dnmt3a maintain DNA methylation and regulate synaptic function in adult forebrain neurons.

PMID 21507354 2011 The DNMT3 family of mammalian de novo DNA methyltransferases.

PMID 10325416 1999 The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors.

PMID 17878930 2007 DNA methylation in the human cerebral cortex is dynamically regulated throughout the life span and involves differentiated neurons.

PMID 28667884 2017 Exome sequencing reveals DNMT3A and ASXL1 variants associate with progression of chronic myeloid leukemia after tyrosine kinase inhibitor therapy.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

PMID 12575993 2003 The Tudor domain 'Royal Family': Tudor, plant Agenet, Chromo, PWWP and MBT domains.

PMID 12138111 2002 A novel Dnmt3a isoform produced from an alternative promoter localizes to euchromatin and its expression correlates with active de novo methylation.

PMID 10647011 1999 Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.

PMID 10555141 1999 DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development.

PMID 12359337 2002 The human DNA methyltransferases DNMT3A and DNMT3B have two types of promoters with different CpG contents.

PMID 11399089 2001 Enzymatic properties of recombinant Dnmt3a DNA methyltransferase from mouse: the enzyme modifies DNA in a non-processive manner and also methylates non-CpG [correction of non-CpA] sites.

PMID 10433969 1999 Cloning, expression and chromosome locations of the human DNMT3 gene family.

rs147001633 in DNMT3A gene and Muscle hypotonia PMID 10325416 1999 The human DNA methyltransferases (DNMTs) 1, 3a and 3b: coordinate mRNA expression in normal tissues and overexpression in tumors.

PMID 12359337 2002 The human DNA methyltransferases DNMT3A and DNMT3B have two types of promoters with different CpG contents.

PMID 12138111 2002 A novel Dnmt3a isoform produced from an alternative promoter localizes to euchromatin and its expression correlates with active de novo methylation.

PMID 12575993 2003 The Tudor domain 'Royal Family': Tudor, plant Agenet, Chromo, PWWP and MBT domains.

PMID 10433969 1999 Cloning, expression and chromosome locations of the human DNMT3 gene family.

PMID 10555141 1999 DNA methyltransferases Dnmt3a and Dnmt3b are essential for de novo methylation and mammalian development.

PMID 10647011 1999 Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.

PMID 16357870 2006 The Polycomb group protein EZH2 directly controls DNA methylation.

PMID 11399089 2001 Enzymatic properties of recombinant Dnmt3a DNA methyltransferase from mouse: the enzyme modifies DNA in a non-processive manner and also methylates non-CpG [correction of non-CpA] sites.

PMID 1423634 1992 A targeting sequence directs DNA methyltransferase to sites of DNA replication in mammalian nuclei.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 28667884 2017 Exome sequencing reveals DNMT3A and ASXL1 variants associate with progression of chronic myeloid leukemia after tyrosine kinase inhibitor therapy.

PMID 26866722 2016 Tatton-Brown-Rahman syndrome due to 2p23 microdeletion.

PMID 19344873 2009 DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.

PMID 15063176 2004 Windows for sex-specific methylation marked by DNA methyltransferase expression profiles in mouse germ cells.

PMID 28386848 2018 Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing.

PMID 27701732 2017 Novel DNMT3A germline mutations are associated with inherited Tatton-Brown-Rahman syndrome.

PMID 2717398 1989 Predictive motifs derived from cytosine methyltransferases.

PMID 21507354 2011 The DNMT3 family of mammalian de novo DNA methyltransferases.

PMID 24614070 2014 Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

PMID 21844811 2011 An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

PMID 27991732 2017 Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.

PMID 28941052 2017 The spectrum of DNMT3A variants in Tatton-Brown-Rahman syndrome overlaps with that in hematologic malignancies.

PMID 20729844 2010 Dnmt3a regulates emotional behavior and spine plasticity in the nucleus accumbens.

PMID 20228804 2010 Dnmt1 and Dnmt3a maintain DNA methylation and regulate synaptic function in adult forebrain neurons.

PMID 20651149 2010 Dnmt3a-dependent nonpromoter DNA methylation facilitates transcription of neurogenic genes.

PMID 15739230 2005 DNA methyltransferase expression in the mouse germ line during periods of de novo methylation.

PMID 15672446 2005 Dynamic expression of de novo DNA methyltransferases Dnmt3a and Dnmt3b in the central nervous system.

PMID 17445268 2007 Coordinate regulation of DNA methyltransferase expression during oogenesis.

PMID 23849776 2013 Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.

PMID 22495306 2012 De novo mutations revealed by whole-exome sequencing are strongly associated with autism.

PMID 21067377 2010 DNMT3A mutations in acute myeloid leukemia.

PMID 16725135 2006 Dynamic expression of DNMT3a and DNMT3b isoforms during male germ cell development in the mouse.

PMID 16501171 2006 Roles for Dnmt3b in mammalian development: a mouse model for the ICF syndrome.

PMID 17878930 2007 DNA methylation in the human cerebral cortex is dynamically regulated throughout the life span and involves differentiated neurons.

PMID 28475857 2017 Mutations in Epigenetic Regulation Genes Are a Major Cause of Overgrowth with Intellectual Disability.