E54* (p.Glu54Ter) variant of NKX2-5 (Homeobox protein Nkx-2.5)
E54* (p.Glu54Ter) in NKX2-5 (Homeobox protein Nkx-2.5) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.
E54* (p.Glu54Ter) variant details
- p.Glu54Ter
- NCI-TCGA Cosmic COSV6130
- cosmic curated COSV61300
- Variant assessed as somatic; high impact.
- Stop Gained
- UniProt: Variant assessed as somatic; high impact.
- Structural context available