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.L320H

c.959T>A

Surrounding Variants

1 paper

NM_006297.3

p.I319M

c.957C>G

1 paper

NM_006297.3

p.I319V

c.955A>G

2 papers

NM_006297.3

p.G322D

c.965G>A

1 paper

NM_006297.3

p.P313_E314ins1

c.939_940insAAG

2 papers

NM_006297.3

p.P313Q

c.938C>A

4 papers

NM_006297.3

p.G312G

c.936C>T

1 paper

NM_006297.3

p.G312S

c.934G>A

1 paper

NM_006297.3

p.R310*

c.928C>T

4 papers

NM_006297.3

p.P309S

c.925C>T

1 paper

NM_006297.3

p.R308*

c.922C>T

1 paper

NM_006297.3

p.P333L

c.998C>T

1 paper

NM_006297.3

p.P306P

c.918C>T