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

9 papers

NM_003401.5

p.R275*

c.823C>T

Surrounding Variants

1 paper

NM_003401.5

p.Q277*

c.829C>T

1 paper

NM_003401.5

p.R278K

c.833G>A

3 papers

NM_003401.5

p.R278I

c.833G>T

2 papers

NM_003401.5

p.K271R

c.812A>G

1 paper

NM_003401.5

p.R270delFs

c.810delA

1 paper

NM_003401.5

p.R270fs

c.808_809fs

1 paper

NM_003401.5

p.E283K

c.847G>A

1 paper

NM_003401.5

p.I266S

c.797T>G

1 paper

NM_003401.5

p.K285R

c.854A>G

1 paper

NM_003401.5

p.V263G

c.788T>G

1 paper

NM_003401.5

p.D262D

c.786T>C

1 paper

NM_003401.5

p.S259A

c.775T>G