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

2 papers

NM_006297.3

p.P187L

c.560C>T

Surrounding Variants

1 paper

NM_006297.3

p.G188R

c.562G>C

1 paper

NM_006297.3

p.G188R

c.562G>A

1 paper

NM_006297.3

p.A189fs

c.565_566fs

1 paper

NM_006297.3

p.A189delFs

c.565delC

2 papers

NM_006297.3

p.S184A

c.550T>G

1 paper

NM_006297.3

p.L190L

c.570C>G

1 paper

NM_006297.3

p.N183S

c.548A>G

1010 papers

NM_006297.3

p.R194W

c.580C>T

11 papers

NM_006297.3

p.R194Q

c.581G>A

1 paper

NM_006297.3

p.R194R

c.582G>T

1 paper

NM_006297.3

p.D179A

c.536A>C

1 paper

NM_006297.3

p.E178G

c.533A>G