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.A294delFs

c.880delC

Surrounding Variants

1 paper

NM_006297.3

p.A294fs

c.880_881fs

1 paper

NM_006297.3

p.G293A

c.878G>C

2 papers

NM_006297.3

p.R290R

c.870A>G

1 paper

NM_006297.3

p.R290*

c.868C>T

2 papers

NM_006297.3

p.K298N

c.894A>T

2 papers

NM_006297.3

p.K298N

c.894A>C

1 paper

NM_006297.3

p.A289A

c.867C>T

1 paper

NM_006297.3

p.P299T

c.895C>A

1 paper

NM_006297.3

p.A289P

c.865G>C

1 paper

NM_006297.3

p.R300*

c.898C>T

1 paper

NM_006297.3

p.G301E

c.902G>A

1 paper

NM_006297.3

p.P286L

c.857C>T