K73N (p.Lys73Asn) variant of XPC (Q01831)
K73N (p.Lys73Asn) in XPC (Q01831) is a missense change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
K73N (p.Lys73Asn) variant details
- p.Lys73Asn
- rs2470304057
- ClinGen CA2582342839
- ClinVar RCV003330361
- Pathogenic
- Missense
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Xeroderma Pigmentosum. (PMID 20301571)