H8D (p.His8Asp) variant of SH2D1A (SH2 domain-containing protein 1A)
H8D (p.His8Asp) in SH2D1A (SH2 domain-containing protein 1A) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in XLP1. The record also includes published literature and structural context.
H8D (p.His8Asp) variant details
- p.His8Asp
- UniProt VAR 048006
- Pathogenic
- in XLP1
- Missense
- EBI: Pathogenic (in XLP1)
- UniProt: Pathogenic (in XLP1)
- Structural context available
- Cited in: SH2D1A mutations in Japanese males with severe Epstein-Barr virus--associated illnesses. (PMID 11493483)
- Cited in: SH2D1A mutation analysis for diagnosis of XLP in typical and atypical patients. (PMID 10598819)