G132S (p.Gly132Ser) variant of INSR (Insulin receptor)
G132S (p.Gly132Ser) in INSR (Insulin receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Rabson-Mendenhall syndrome. The record also includes published literature and structural context.
G132S (p.Gly132Ser) variant details
- p.Gly132Ser
- rs886037750
- ClinGen CA10575769
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10025
- Pathogenic
- Rabson-Mendenhall syndrome
- Missense
- ClinVar: Pathogenic (Rabson-Mendenhall syndrome)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: INSR-Related Severe Insulin Resistance Syndrome. (PMID 29369573)