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.D59delFs

c.175delC

Surrounding Variants

1 paper

NM_006297.3

p.D59fs

c.175_176fs

1 paper

NM_006297.3

p.V58V

c.174G>C

6 papers

NM_006297.3

p.V58L

c.172G>T

1 paper

NM_006297.3

p.G61E

c.182G>A

1 paper

NM_006297.3

p.N62insFs

c.185_186insA

1 paper

NM_006297.3

p.H56Y

c.166C>T

1 paper

NM_006297.3

p.I55V

c.163A>G

1 paper

NM_006297.3

p.Q54*

c.160C>T

1 paper

NM_006297.3

p.Q54K

c.160C>A

1 paper

NM_006297.3

p.E52_E53del1

c.155_157delCCT

1 paper

NM_006297.3

p.S65T

c.193T>A

29 papers

NM_006297.3

p.S65L

c.194C>T