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.D179A

c.536A>C

Surrounding Variants

1 paper

NM_006297.3

p.E178G

c.533A>G

1 paper

NM_006297.3

p.N183S

c.548A>G

2 papers

NM_006297.3

p.S184A

c.550T>G

2 papers

NM_006297.3

p.R174R

c.522T>A

3 papers

NM_006297.3

p.R174H

c.521G>A

2 papers

NM_006297.3

p.F173L

c.519C>G

1 paper

NM_006297.3

p.F173L

c.519C>A

2 papers

NM_006297.3

p.F173Y

c.518T>A

2 papers

NM_006297.3

p.F173L

c.517T>C

1 paper

NM_006297.3

p.Q172H

c.516G>T

1 paper

NM_006297.3

p.Q172H

c.516G>C

2 papers

NM_006297.3

p.P187L

c.560C>T