Varaico: Literature-Extracted Genetic Variants

XRCC4

333 papers

RefSeq Summary

The protein encoded by this gene functions together with DNA ligase IV and the DNA-dependent protein kinase in the repair of DNA double-strand breaks. This protein plays a role in both non-homologous ...

Pfam Domains

XRCC4aa 17–114UCSCXRCC4 N-terminal domain

XRCC4_CCaa 117–194UCSCXRCC4 coiled-coil

XRCC4_Caa 222–334UCSCXRCC4 C-terminal region

Gene Aliases

HGNC Name

X-ray repair cross complementing 4

HGNC Alias Symbol

hXRCC4

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_003401.5

p.S326R

c.976A>C

Surrounding Variants

2 papers

NM_003401.5

p.S326C

c.976A>T

1 paper

NM_003401.5

p.N324H

c.970A>C

1 paper

NM_003401.5

p.F331L

c.991T>C

1 paper

NM_003401.5

p.S318A

c.952T>G

1 paper

NM_003401.5

p.I312I

c.936C>T

2 papers

NM_003401.5

p.E310K

c.928G>A

1 paper

NM_003401.5

p.K308R

c.923A>G

1 paper

NM_003401.5

p.K308fs

c.922_923fs

2 papers

NM_003401.5

p.S307S

c.921T>G

1 paper

NM_003401.5

p.K308delFs

c.922delA

1 paper

NM_003401.5

p.K298N

c.894G>T

8 papers

NM_003401.5

p.K298Splc

c.894-1G>A