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.S75L

c.224C>T

Surrounding Variants

1 paper

NM_006297.3

p.S74S

c.222T>C

1 paper

NM_006297.3

p.G73A

c.218G>C

2 papers

NM_006297.3

p.V72V

c.216G>T

2 papers

NM_006297.3

p.V72V

c.216G>A

8 papers

NM_006297.3

p.V72A

c.215T>C

2 papers

NM_006297.3

p.A79T

c.235G>A

1 paper

NM_006297.3

p.A79A

c.237T>C

2 papers

NM_006297.3

p.G80R

c.238G>C

2 papers

NM_006297.3

p.G80R

c.238G>A

4 papers

NM_006297.3

p.G80A

c.239G>C

1 paper

NM_006297.3

p.V70M

c.208G>A

1 paper

NM_006297.3

p.E81D

c.243G>T