G42D (p.Gly42Asp) variant of MEN1 (Menin)
G42D (p.Gly42Asp) in MEN1 (Menin) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in MEN1. The record also includes published literature and structural context.
G42D (p.Gly42Asp) variant details
- p.Gly42Asp
- cosmic curated COSV56345
- Ensembl rs1565652689
- UniProt VAR 005429
- Pathogenic
- in MEN1
- Missense
- EBI: Pathogenic (in MEN1)
- UniProt: Pathogenic (in MEN1)
- Structural context available
- Cited in: Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and… (PMID 12112656)
- Cited in: Characterization of mutations in patients with multiple endocrine neoplasia type 1. (PMID 9463336)