G5C (p.Gly5Cys) variant of GJB1 (Gap junction beta-1 protein)
G5C (p.Gly5Cys) in GJB1 (Gap junction beta-1 protein) is a missense change. Clinical records from UniProt describe it as variant assessed as somatic; moderate impact. The record also includes structural context.
G5C (p.Gly5Cys) variant details
- p.Gly5Cys
- NCI-TCGA Cosmic COSV6213
- cosmic curated COSV62139
- Variant assessed as somatic; moderate impact.
- Missense
- UniProt: Variant assessed as somatic; moderate impact.
- Structural context available