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.R355W

c.1063C>T

Surrounding Variants

1 paper

NM_006297.3

p.R355Q

c.1064G>A

1 paper

NM_006297.3

p.T358A

c.1072A>G

1 paper

NM_006297.3

p.R350Q

c.1049G>A

1 paper

NM_006297.3

p.R350W

c.1048C>T

5 papers

NM_006297.3

p.L360R

c.1079T>G

1 paper

NM_006297.3

p.A342T

c.1024G>A

1 paper

NM_006297.3

p.K341delFs

c.1022delT

1 paper

NM_006297.3

p.K341R

c.1022A>G

12 papers

NM_006297.3

p.R339Q

c.1016G>A

2 papers

NM_006297.3

p.R339*

c.1015C>T

1 paper

NM_006297.3

p.R335H

c.1004G>A

1 paper

NM_006297.3

p.R335C

c.1003C>T