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.R493fs

c.1477_1478fs

Surrounding Variants

1 paper

NM_006297.3

p.R493delFs

c.1477delT

17 papers

NM_006297.3

p.E491K

c.1471G>A

1 paper

NM_006297.3

p.E489G

c.1466A>G

1 paper

NM_006297.3

p.R494Splc

c.1481+9G>A

4 papers

NM_006297.3

p.T488A

c.1462A>G

1 paper

NM_006297.3

p.D487G

c.1460A>G

1 paper

NM_006297.3

p.S485F

c.1454C>T

7 papers

NM_006297.3

p.S485Y

c.1454C>A

2 papers

NM_006297.3

p.S485A

c.1453T>G

1 paper

NM_006297.3

p.D484H

c.1450G>C

1 paper

NM_006297.3

p.D484N

c.1450G>A

1 paper

NM_006297.3

p.E483_D484insFs

c.1449_1450ins4