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.A365A

c.1095C>A

Surrounding Variants

1 paper

NM_006297.3

p.T367A

c.1099A>G

1 paper

NM_006297.3

p.C362C

c.1086T>C

2 papers

NM_006297.3

p.T367delFs

c.1100delG

2 papers

NM_006297.3

p.Q372*

c.1114C>T

1 paper

NM_006297.3

p.Q372L

c.1115A>T

1 paper

NM_006297.3

p.V373V

c.1119C>T

1 paper

NM_006297.3

p.G375C

c.1123G>T

1 paper

NM_006297.3

p.G377R

c.1129G>A

4 papers

NM_006297.3

p.R379C

c.1135C>T

2 papers

NM_006297.3

p.R379H

c.1136G>A

1 paper

NM_006297.3

p.I361Splc

c.1083-30A>T

7 papers

NM_006297.3

p.V381M

c.1141G>A