XRCC1
Chr 19ARX-ray repair cross complementing 1
Also known as: RCC, SCAR26
XRCC1 encodes a scaffold protein that mediates DNA single-strand break repair by assembling repair protein complexes and regulating PARP1 activity during base excision repair. Mutations cause autosomal recessive spinocerebellar ataxia 26, affecting the cerebellum and causing progressive coordination problems. The gene is highly constrained against loss-of-function variants (pLI near 0, LOEUF 0.74), indicating that complete loss of function is likely incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
163 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 | 1 | 0 | 5 | 0 | 6 |
Likely Pathogenic | 1 | 1 | 1 | 0 | 3 |
VUS | 2 | 76 | 11 | 0 | 89 |
Likely Benign | 0 | 9 | 3 | 12 | 24 |
Benign | 0 | 4 | 5 | 5 | 14 |
Conflicting | — | 1 | |||
| Total | 4 | 90 | 25 | 17 | 137 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
XRCC1 · 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
Testing the Addition of M6620 (VX-970, Berzosertib) to Usual Chemotherapy and Radiation for Head and Neck Cancer
ACTIVE NOT RECRUITINGGenetic Susceptibility in MAlignant Pleural Mesothelioma: Clinical Implication of GermliNE variaTionS
RECRUITINGExternal Resources
Links to major genomics databases and tools