E285* (p.Glu285Ter) variant of RPGR (Q92834)
E285* (p.Glu285Ter) in RPGR (Q92834) is a protein-truncating change. Clinical records from UniProt describe it as variant assessed as somatic; high impact in the context of in RP3. The record also includes structural context.
E285* (p.Glu285Ter) variant details
- p.Glu285Ter
- NCI-TCGA Cosmic COSV1001
- cosmic curated COSV10014
- Variant assessed as somatic; high impact.
- in RP3
- Stop Gained
- UniProt: Variant assessed as somatic; high impact. (in RP3)
- Structural context available