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.S145S

c.435T>C

Surrounding Variants

1 paper

NM_006297.3

p.L144S

c.431T>C

3 papers

NM_006297.3

p.G143G

c.429C>T

1 paper

NM_006297.3

p.P141S

c.421C>T

2 papers

NM_006297.3

p.P141T

c.421C>A

1 paper

NM_006297.3

p.S151C

c.451A>T

1 paper

NM_006297.3

p.S151G

c.451A>G

1 paper

NM_006297.3

p.S151N

c.452G>A

1 paper

NM_006297.3

p.D139D

c.417C>T

1 paper

NM_006297.3

p.D139G

c.416A>G

1 paper

NM_006297.3

p.P153Q

c.458C>A

3 papers

NM_006297.3

p.D154N

c.460G>A

1 paper

NM_006297.3

p.K155E

c.463A>G