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.L396V

c.1186C>G

Surrounding Variants

1 paper

NM_006297.3

p.R394W

c.1180C>T

1 paper

NM_006297.3

p.S398Y

c.1193C>A

4 papers

NM_006297.3

p.R393H

c.1178G>A

169 papers

NM_006297.3

p.Q399R

c.1196A>G

1 paper

NM_006297.3

p.Q399P

c.1196A>C

1 paper

NM_006297.3

p.H390Y

c.1168C>T

1 paper

NM_006297.3

p.C389C

c.1167T>C

3 papers

NM_006297.3

p.C389Y

c.1166G>A

1 paper

NM_006297.3

p.D388insFs

c.1162dupG

9 papers

NM_006297.3

p.L387L

c.1161G>A

1 paper

NM_006297.3

p.L387Q

c.1160T>A

1 paper

NM_006297.3

p.W385*

c.1155G>A