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

7 papers

NM_006297.3

p.T523A

c.1567A>G

Surrounding Variants

1 paper

NM_006297.3

p.T523M

c.1568C>T

1 paper

NM_006297.3

p.N522Y

c.1564A>T

1 paper

NM_006297.3

p.E527Q

c.1579G>C

6 papers

NM_006297.3

p.T519A

c.1555A>G

4 papers

NM_006297.3

p.S518A

c.1552T>G

1 paper

NM_006297.3

p.H528Y

c.1582C>T

1 paper

NM_006297.3

p.G517D

c.1550G>A

1 paper

NM_006297.3

p.Q529E

c.1585C>G

4 papers

NM_006297.3

p.P514L

c.1541C>T

1 paper

NM_006297.3

p.P514Q

c.1541C>A

1 paper

NM_006297.3

p.D533N

c.1597G>A

1 paper

NM_006297.3

p.D533G

c.1598A>G