Varaico: Literature-Extracted Genetic Variants

XRCC1

1,763 papers

RefSeq Summary

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 ...

Pfam Domains

XRCC1_Naa 1–149UCSCXRCC1 N terminal domain

BRCTaa 315–390UCSCBRCA1 C Terminus (BRCT) domain

BRCTaa 538–616UCSCBRCA1 C Terminus (BRCT) domain

Gene Aliases

HGNC Name

X-ray repair cross complementing 1

HGNC Previous Name

X-ray repair complementing defective repair in Chinese hamster cells 1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006297.3

p.S236F

c.707C>T

Surrounding Variants

1 paper

NM_006297.3

p.T235S

c.703A>T

1 paper

NM_006297.3

p.K237_P238Splc

c.711+1G>T

1 paper

NM_006297.3

p.K237_P238Splc

c.711+1G>A

1 paper

NM_006297.3

p.I232T

c.695T>C

1 paper

NM_006297.3

p.R230insFs

c.689_690insT

1 paper

NM_006297.3

p.S229Y

c.686C>A

1 paper

NM_006297.3

p.P227L

c.680C>T

1 paper

NM_006297.3

p.S226S

c.678T>C

17 papers

NM_006297.3

p.S226F

c.677C>T

1 paper

NM_006297.3

p.S226A

c.676T>G

1 paper

NM_006297.3

p.S224A

c.670T>G

5 papers

NM_006297.3

p.A222V

c.665C>T