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.E412E

c.1236G>A

Surrounding Variants

1 paper

NM_006297.3

p.E411K

c.1231G>A

5 papers

NM_006297.3

p.A415A

c.1245C>G

2 papers

NM_006297.3

p.S409G

c.1225A>G

1 paper

NM_006297.3

p.G407_S408del1

c.1221_1223delGAA

2 papers

NM_006297.3

p.S408A

c.1222T>G

9 papers

NM_006297.3

p.S418S

c.1254C>T

1 paper

NM_006297.3

p.M403delFs

c.1209delC

1 paper

NM_006297.3

p.S418_D423insFs

c.1253_1269dup17

2 papers

NM_006297.3

p.R400Splc

c.1200-2A>G

1 paper

NM_006297.3

p.P429S

c.1285C>T

1 paper

NM_006297.3

p.P429T

c.1285C>A

2 papers

NM_006297.3

p.P429L

c.1286C>T