E272K (p.Glu272Lys) variant of FAS (P25445)
E272K (p.Glu272Lys) in FAS (P25445) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Autoimmune lymphoproliferative syndrome type 1. The record also includes published literature and structural context.
E272K (p.Glu272Lys) variant details
- p.Glu272Lys
- rs2495226256
- ClinGen CA377509870
- ClinVar RCV003037352
- UniProt VAR 013435
- Pathogenic
- Autoimmune lymphoproliferative syndrome type 1
- Missense
- ClinVar: Pathogenic (Autoimmune lymphoproliferative syndrome type 1)
- EBI: Pathogenic (in ALPS1A)
- UniProt: Pathogenic (in ALPS1A)
- Structural context available
- Cited in: Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical… (PMID 10515860)
- Cited in: The Fas-FADD death domain complex structure reveals the basis of DISC assembly and disease mutations. (PMID 20935634)