S100* (p.Ser100Ter) variant of JPH2 (Junctophilin-2)
S100* (p.Ser100Ter) in JPH2 (Junctophilin-2) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact. The record also includes structural context.
S100* (p.Ser100Ter) variant details
- p.Ser100Ter
- NCI-TCGA Cosmic COSV1006
- cosmic curated COSV10065
- Variant assessed as somatic; high impact.
- Stop Gained
- UniProt: Variant assessed as somatic; high impact.
- Structural context available