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.F67S

c.200T>C

Surrounding Variants

1 paper

NM_006297.3

p.F67F

c.201C>T

1 paper

NM_006297.3

p.V68M

c.202G>A

1 paper

NM_006297.3

p.A66V

c.197C>T

1 paper

NM_006297.3

p.V68V

c.204G>A

1 paper

NM_006297.3

p.A66T

c.196G>A

4 papers

NM_006297.3

p.E69K

c.205G>A

29 papers

NM_006297.3

p.S65L

c.194C>T

2 papers

NM_006297.3

p.S65*

c.194C>G

1 paper

NM_006297.3

p.S65T

c.193T>A

1 paper

NM_006297.3

p.V70M

c.208G>A

1 paper

NM_006297.3

p.N62insFs

c.185_186insA

8 papers

NM_006297.3

p.V72A

c.215T>C