F112S (p.Phe112Ser) variant of XPA (P23025)
F112S (p.Phe112Ser) in XPA (P23025) is a missense change. Clinical records from UniProt describe it as xeroderma pigmentosum group a. The record also includes published literature and structural context.
F112S (p.Phe112Ser) variant details
- p.Phe112Ser
- rs886039226
- ClinGen CA10587998
- ClinVar RCV000254511
- Ensembl rs886039226
- Xeroderma pigmentosum group a
- Missense
- UniProt: Xeroderma pigmentosum group a
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)