Variant: rs1555226395

present in Gene: SYT1 present in Chromosome: 12 Position on Chromosome: 79448945 Alleles of this Variant: G/A

rs1555226395 in SYT1 gene and Dysmorphic features PMID 26030874 2015 Dynamic binding mode of a Synaptotagmin-1-SNARE complex in solution.

PMID 11668675 2001 Drosophila synaptotagmin I null mutants survive to early adulthood.

PMID 12110842 2002 The C(2)B Ca(2+)-binding motif of synaptotagmin is required for synaptic transmission in vivo.

PMID 23283333 2013 Genetic analysis of synaptotagmin C2 domain specificity in regulating spontaneous and evoked neurotransmitter release.

PMID 24183019 2013 Neurotransmitter release: the last millisecond in the life of a synaptic vesicle.

PMID 25698934 2015 Bruchpilot and Synaptotagmin collaborate to drive rapid glutamate release and active zone differentiation.

PMID 15492212 2004 Kinetic efficiency of endocytosis at mammalian CNS synapses requires synaptotagmin I.

PMID 18275379 2008 How does synaptotagmin trigger neurotransmitter release?

PMID 27476655 2016 ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.

PMID 21307261 2011 Membrane penetration by synaptotagmin is required for coupling calcium binding to vesicle fusion in vivo.

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

PMID 19926819 2010 Cyclic AMP-mediated endocytosis of intestinal epithelial NHE3 requires binding to synaptotagmin 1.

PMID 7954835 1994 Synaptotagmin I: a major Ca2+ sensor for transmitter release at a central synapse.

PMID 15456828 2004 Dual roles of the C2B domain of synaptotagmin I in synchronizing Ca2+-dependent neurotransmitter release.

PMID 7477324 1995 Defective recycling of synaptic vesicles in synaptotagmin mutants of Caenorhabditis elegans.

PMID 25775572 2015 Transmembrane tethering of synaptotagmin to synaptic vesicles controls multiple modes of neurotransmitter release.

PMID 25705886 2015 Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.

PMID 14715137 2004 N-glycosylation is essential for vesicular targeting of synaptotagmin 1.

rs1555226395 in SYT1 gene and Muscle hypotonia PMID 27476655 2016 ARCN1 Mutations Cause a Recognizable Craniofacial Syndrome Due to COPI-Mediated Transport Defects.

PMID 18275379 2008 How does synaptotagmin trigger neurotransmitter release?

PMID 12110842 2002 The C(2)B Ca(2+)-binding motif of synaptotagmin is required for synaptic transmission in vivo.

PMID 14715137 2004 N-glycosylation is essential for vesicular targeting of synaptotagmin 1.

PMID 7477324 1995 Defective recycling of synaptic vesicles in synaptotagmin mutants of Caenorhabditis elegans.

PMID 21307261 2011 Membrane penetration by synaptotagmin is required for coupling calcium binding to vesicle fusion in vivo.

PMID 15456828 2004 Dual roles of the C2B domain of synaptotagmin I in synchronizing Ca2+-dependent neurotransmitter release.

PMID 25775572 2015 Transmembrane tethering of synaptotagmin to synaptic vesicles controls multiple modes of neurotransmitter release.

PMID 7954835 1994 Synaptotagmin I: a major Ca2+ sensor for transmitter release at a central synapse.

PMID 23283333 2013 Genetic analysis of synaptotagmin C2 domain specificity in regulating spontaneous and evoked neurotransmitter release.

PMID 26030874 2015 Dynamic binding mode of a Synaptotagmin-1-SNARE complex in solution.

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

PMID 15492212 2004 Kinetic efficiency of endocytosis at mammalian CNS synapses requires synaptotagmin I.

PMID 11668675 2001 Drosophila synaptotagmin I null mutants survive to early adulthood.

PMID 25698934 2015 Bruchpilot and Synaptotagmin collaborate to drive rapid glutamate release and active zone differentiation.

PMID 19926819 2010 Cyclic AMP-mediated endocytosis of intestinal epithelial NHE3 requires binding to synaptotagmin 1.

PMID 25705886 2015 Identification of a human synaptotagmin-1 mutation that perturbs synaptic vesicle cycling.

PMID 24183019 2013 Neurotransmitter release: the last millisecond in the life of a synaptic vesicle.