Q58* (p.Gln58Ter) variant of SH2D1A (SH2 domain-containing protein 1A)
Q58* (p.Gln58Ter) in SH2D1A (SH2 domain-containing protein 1A) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q58* (p.Gln58Ter) variant details
- p.Gln58Ter
- rs111033628
- ClinGen CA255592
- ClinVar RCV000011646
- Ensembl rs111033628
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding… (PMID 9771704)
- Cited in: X-Linked Lymphoproliferative Disease. (PMID 20301580)