XRCC1

Chr 19

X-ray repair cross complementing 1

Also known as: RCC, SCAR26

NCBI Gene: 7515ENSG00000073050UniProt: P18887

The protein encoded by this gene is involved in the efficient repair of DNA single-strand breaks formed by exposure to ionizing radiation and alkylating agents. This protein interacts with DNA ligase III, polymerase beta and poly (ADP-ribose) polymerase to participate in the base excision repair pathway. It may play a role in DNA processing during meiogenesis and recombination in germ cells. A rare microsatellite polymorphism in this gene is associated with cancer in patients of varying radiosensitivity. [provided by RefSeq, Jul 2008]

ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpinocerebellar ataxia, autosomal recessive, 26
2
Active trials
130
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.74
LOEUF
—
Mechanism
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.74LOEUF
pLI 0.000
Z-score 2.85
OE 0.51 (0.36–0.74)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.72Z-score
OE missense 0.90 (0.82–0.98)
348 obs / 387.6 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.51 (0.36–0.74)
0≤0.351.4
Missense OE?0.90 (0.82–0.98)
0≤0.61.4
Synonymous OE?0.91
0≤1.21.6
LoF obs/exp: 20 / 39.3Missense obs/exp: 348 / 387.6Syn Z: 0.89

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients