N351D (p.Asn351Asp) variant of GATA2 (P23769)
N351D (p.Asn351Asp) in GATA2 (P23769) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Myelodysplastic syndrome. The record also includes structural context.
N351D (p.Asn351Asp) variant details
- p.Asn351Asp
- cosmic curated COSV62004
- Pathogenic
- Myelodysplastic syndrome
- Missense
- ClinVar: Pathogenic (Myelodysplastic syndrome)
- UniProt: Pathogenic
- Structural context available