XPC
Chr 3ARXPC complex subunit, DNA damage recognition and repair factor
Also known as: RAD4, XP3, XPCC, p125
The XPC protein functions as a damage-sensing and DNA-binding component of the XPC complex, which initiates global genome nucleotide excision repair by recognizing DNA helix distortions and recruiting downstream repair machinery. Mutations cause xeroderma pigmentosum group C, an autosomal recessive disorder characterized by extreme UV sensitivity and early-onset skin cancers due to impaired DNA repair. The gene is highly constrained against loss-of-function variants (LOEUF 0.78), reflecting the critical importance of DNA repair mechanisms.
Definitive — sufficient evidence for diagnostic panels
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
200 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 20 | 0 | 3 | 0 | 23 |
Likely Pathogenic | 7 | 0 | 0 | 0 | 7 |
VUS | 0 | 47 | 1 | 0 | 48 |
Likely Benign | 0 | 4 | 53 | 46 | 103 |
Benign | 0 | 0 | 4 | 0 | 4 |
| Total | 27 | 51 | 61 | 46 | 185 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
XPC · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
External Resources
Links to major genomics databases and tools