N125G (p.Asn125Gly) variant of KRT16 (Keratin, type I cytoskeletal 16)
N125G (p.Asn125Gly) in KRT16 (Keratin, type I cytoskeletal 16) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Pachyonychia congenita 1. The record also includes published literature and structural context.
N125G (p.Asn125Gly) variant details
- p.Asn125Gly
- rs587777717
- ClinGen CA270676
- ClinVar RCV000144082
- UniProt VAR 072439
- Pathogenic
- Pachyonychia congenita 1
- Missense
- ClinVar: Pathogenic (Pachyonychia congenita 1)
- EBI: Pathogenic (in PC1)
- UniProt: Pathogenic (in PC1)
- Structural context available
- Cited in: Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured… (PMID 22668561)
- Cited in: Pachyonychia Congenita. (PMID 20301457)