E278K (p.Glu278Lys) variant of HNF4A (P41235)
E278K (p.Glu278Lys) in HNF4A (P41235) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Maturity-onset diabetes of the young type 1; not provided. The record also includes structural context.
E278K (p.Glu278Lys) variant details
- p.Glu278Lys
- NCI-TCGA Cosmic COSV1002
- cosmic curated COSV10029
- Likely pathogenic
- Maturity-onset diabetes of the young type 1; not provided
- Missense
- ClinVar: Likely pathogenic (Maturity-onset diabetes of the young type 1; not provided)
- UniProt: Likely pathogenic
- Structural context available