XRCC1 Chromosome 19
X-ray repair cross complementing 1
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What This Gene Does
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]
Associated Conditions (6)
Platinum compounds response - Efficacy
Spinocerebellar ataxia
autosomal recessive 26
Laryngeal squamous cell carcinoma
XRCC1-related disorder
Malignant tumor of esophagus
Key Variants
RS25487
drug response
Platinum compounds response - Efficacy, Spinocerebellar ataxia, autosomal recessive 26
Drug Response
RS1799780
association
Laryngeal squamous cell carcinoma, Laryngeal squamous cell carcinoma
Health Risk
RS25489
association
Laryngeal squamous cell carcinoma, Laryngeal squamous cell carcinoma
Health Risk
RS45592142
association
Laryngeal squamous cell carcinoma, Laryngeal squamous cell carcinoma, Laryngeal squamous cell carcinoma
Health Risk
RS200528601
Conflicting classifications of pathogenicity
XRCC1-related disorder, XRCC1-related disorder
Health Risk
RS574450911
Likely pathogenic
Spinocerebellar ataxia, autosomal recessive 26, Malignant tumor of esophagus
Health Risk
RS761564262
Likely pathogenic
Spinocerebellar ataxia, autosomal recessive 26, Spinocerebellar ataxia
Health Risk
RS1555768154
Pathogenic
Spinocerebellar ataxia, autosomal recessive 26, Spinocerebellar ataxia
Health Risk
All Variants (8)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS25487 | Drug Response | drug response | Platinum compounds response - Efficacy, Spinocerebellar ataxia, autosomal recessive 26 |
| RS1799780 | Health Risk | association | Laryngeal squamous cell carcinoma, Laryngeal squamous cell carcinoma |
| RS25489 | Health Risk | association | Laryngeal squamous cell carcinoma, Laryngeal squamous cell carcinoma |
| RS45592142 | Health Risk | association | Laryngeal squamous cell carcinoma, Laryngeal squamous cell carcinoma, Laryngeal squamous cell carcinoma |
| RS200528601 | Health Risk | Conflicting classifications of pathogenicity | XRCC1-related disorder, XRCC1-related disorder |
| RS574450911 | Health Risk | Likely pathogenic | Spinocerebellar ataxia, autosomal recessive 26, Malignant tumor of esophagus |
| RS761564262 | Health Risk | Likely pathogenic | Spinocerebellar ataxia, autosomal recessive 26, Spinocerebellar ataxia |
| RS1555768154 | Health Risk | Pathogenic | Spinocerebellar ataxia, autosomal recessive 26, Spinocerebellar ataxia |