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

1–12 of 154 variants

25 papers

NM_003401.5

p.I134T

c.401T>C

22 papers

NM_003401.5

p.A247S

c.739G>T

19 papers

NM_003401.5

p.W43R

c.127T>A

19 papers

NM_003401.5

p.W43R

c.127T>C

12 papers

NM_003401.5

p.I8delFs

c.24delC

11 papers

NM_003401.5

p.R225*

c.673C>T

10 papers

NM_003401.5

p.R161Q

c.482G>A

9 papers

NM_003401.5

p.R275*

c.823C>T

8 papers

NM_003401.5

p.R161*

c.481C>T

8 papers

NM_003401.5

p.K298Splc

c.894-1G>A

7 papers

NM_003401.5

p.T233A

c.697A>G

5 papers

NM_003401.5

p.H9fs

c.25_26fs