Variant: rs1223430276 

    present in Gene: LZTR1
    present in Chromosome: 22
    Position on Chromosome: 20991684
    Alleles of this Variant: G/A

rs1223430276 in LZTR1 gene and NOONAN SYNDROME 10 PMID 29959388 2019 Noonan syndrome associated with growth hormone deficiency with biallelic LZTR1 variants.

PMID 30442762 2018 Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination.

PMID 30442766 2018 LZTR1 is a regulator of RAS ubiquitination and signaling.

PMID 16356934 2006 The BTB-kelch protein LZTR-1 is a novel Golgi protein that is degraded upon induction of apoptosis.

PMID 30368668 2019 Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.

PMID 25795793 2015 Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.

PMID 30481304 2019 Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the Kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.