N77K (p.Asn77Lys) variant of GFAP (Glial fibrillary acidic protein)
N77K (p.Asn77Lys) in GFAP (Glial fibrillary acidic protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided. The record also includes published literature.
N77K (p.Asn77Lys) variant details
- p.Asn77Lys
- rs149404477
- ClinGen CA399848701
- ClinVar RCV003560015
- UniProt VAR 071527
- Pathogenic
- not provided
- Missense
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in ALXDRD)
- UniProt: Pathogenic (in ALXDRD)
- Cited in: Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations. (PMID 23364391)
- Cited in: Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. (PMID 11138011)