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

25 papers

NM_003401.5

p.I134T

c.401T>C

Surrounding Variants

1 paper

NM_003401.5

p.A135E

c.404C>A

3 papers

NM_003401.5

p.N137K

c.411T>A

3 papers

NM_003401.5

p.N137K

c.411T>G

1 paper

NM_003401.5

p.Y129*

c.387T>A

1 paper

NM_003401.5

p.C128*

c.384T>A

1 paper

NM_003401.5

p.E142Q

c.424G>C

1 paper

NM_003401.5

p.E142fs

c.424_425fs

5 papers

NM_003401.5

p.R124*

c.370A>T

1 paper

NM_003401.5

p.Q145E

c.433C>G

1 paper

NM_003401.5

p.E121V

c.362A>T

1 paper

NM_003401.5

p.P119P

c.357A>T

1 paper

NM_003401.5

p.P119T

c.355C>A