Variant: rs1419388177 

    present in Gene: LZTR1
    present in Chromosome: 22
    Position on Chromosome: 20996754
    Alleles of this Variant: T/C

rs1419388177 in LZTR1 gene and SCHWANNOMATOSIS 2 PMID 30442766 2018 LZTR1 is a regulator of RAS ubiquitination and signaling.

PMID 25480913 2015 Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.

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

PMID 25335493 2015 Expanding the mutational spectrum of LZTR1 in schwannomatosis.

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

PMID 24362817 2014 Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.