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.E236A

c.707A>C

Surrounding Variants

1 paper

NM_003401.5

p.N239I

c.716A>T

1 paper

NM_003401.5

p.T233P

c.697A>C

7 papers

NM_003401.5

p.T233A

c.697A>G

2 papers

NM_003401.5

p.Q240P

c.719A>C

2 papers

NM_003401.5

p.Q240R

c.719A>G

1 paper

NM_003401.5

p.S232G

c.694A>G

2 papers

NM_003401.5

p.T241I

c.722C>T

1 paper

NM_003401.5

p.D242Y

c.724G>T

1 paper

NM_003401.5

p.S244insFs

c.732dupT

22 papers

NM_003401.5

p.A247S

c.739G>T

1 paper

NM_003401.5

p.A247D

c.740C>A

11 papers

NM_003401.5

p.R225*

c.673C>T