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.N616S

c.1847A>G

Surrounding Variants

1 paper

NM_006297.3

p.Q619*

c.1855C>T

1 paper

NM_006297.3

p.K620K

c.1860G>A

1 paper

NM_006297.3

p.L622R

c.1865T>G

1 paper

NM_006297.3

p.R610*

c.1828C>T

1 paper

NM_006297.3

p.P623S

c.1867C>T

1 paper

NM_006297.3

p.P609insFs

c.1826_1827insT

1 paper

NM_006297.3

p.G628V

c.1883G>T

1 paper

NM_006297.3

p.V629M

c.1885G>A

1 paper

NM_006297.3

p.S603F

c.1808C>T

15 papers

NM_006297.3

p.P602T

c.1804C>A

1 paper

NM_006297.3

p.N601I

c.1802A>T

1 paper

NM_006297.3

p.Q632H

c.1896A>T