E42* (p.Glu42Ter) variant of GJA1 (Gap junction alpha-1 protein)
E42* (p.Glu42Ter) in GJA1 (Gap junction alpha-1 protein) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.
E42* (p.Glu42Ter) variant details
- p.Glu42Ter
- NCI-TCGA Cosmic COSV5699
- Variant assessed as somatic; high impact.
- Stop Gained
- UniProt: Variant assessed as somatic; high impact.
- Structural context available