R40* (p.Arg40Ter) variant of KCNJ2 (P63252)
R40* (p.Arg40Ter) in KCNJ2 (P63252) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
R40* (p.Arg40Ter) variant details
- p.Arg40Ter
- rs786205811
- ClinGen CA302012
- cosmic curated COSV99078
- ClinVar RCV000170970
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. (PMID 20298421)
- Cited in: Long QT Syndrome Overview. (PMID 20301308)