Y647C (p.Tyr647Cys) variant of GRIN1 (Q05586)
Y647C (p.Tyr647Cys) in GRIN1 (Q05586) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of not provided. The record also includes published literature and structural context.
Y647C (p.Tyr647Cys) variant details
- p.Tyr647Cys
- Pathogenic
- not provided
- Missense
- ClinVar: Pathogenic (not provided)
- UniProt: Pathogenic (in NDHMSD)
- Structural context available
- Cited in: De novo GRIN variants in M3 helix associated with neurological disorders control channel gating of NMDA receptor. (PMID 38538865)