D39N (p.Asp39Asn) variant of IL2RG (P31785)
D39N (p.Asp39Asn) in IL2RG (P31785) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in XSCID. The record also includes published literature and structural context.
D39N (p.Asp39Asn) variant details
- p.Asp39Asn
- UniProt VAR 002668
- Pathogenic
- in XSCID
- Missense
- EBI: Pathogenic (in XSCID)
- UniProt: Pathogenic (in XSCID)
- Structural context available
- Cited in: Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency… (PMID 7937790)
- Cited in: Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency. (PMID 10794430)