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

1–12 of 461 variants

1010 papers

NM_006297.3

p.R194W

c.580C>T

602 papers

NM_006297.3

p.R280H

c.839G>A

169 papers

NM_006297.3

p.Q399R

c.1196A>G

29 papers

NM_006297.3

p.S65L

c.194C>T

17 papers

NM_006297.3

p.P161L

c.482C>T

17 papers

NM_006297.3

p.S226F

c.677C>T

17 papers

NM_006297.3

p.E491K

c.1471G>A

15 papers

NM_006297.3

p.T304A

c.910A>G

15 papers

NM_006297.3

p.P602T

c.1804C>A

13 papers

NM_006297.3

p.G506A

c.1517G>C

12 papers

NM_006297.3

p.R339Q

c.1016G>A

12 papers

NM_006297.3

p.K431N

c.1293G>C