Varaico: Literature-Extracted Genetic Variants

XRCC5

363 papers

RefSeq Summary

The protein encoded by this gene is the 80-kilodalton subunit of the Ku heterodimer protein which is also known as ATP-dependant DNA helicase II or DNA repair protein XRCC5. Ku is the DNA-binding comp...

Pfam Domains

Ku_Naa 9–244UCSCKu70/Ku80 N-terminal alpha/beta domain

Kuaa 253–453UCSCKu70/Ku80 beta-barrel domain

Ku_Caa 476–568UCSCKu70/Ku80 C-terminal arm

Ku_PK_bindaa 593–706UCSCKu C terminal domain like

Gene Aliases

HGNC Name

X-ray repair cross complementing 5

HGNC Alias Symbols

KU80; KARP-1; Ku86; KUB2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_021141.4

p.K703_F704Splc

c.2109+2011A>G

Surrounding Variants

1 paper

NM_021141.4

p.E699delFs

c.2097delG

1 paper

NM_021141.4

p.S694N

c.2081G>A

1 paper

NM_021141.4

p.G693R

c.2077G>A

1 paper

NM_021141.4

p.A691S

c.2071G>T

1 paper

NM_021141.4

p.E690D

c.2070A>C

1 paper

NM_021141.4

p.E690D

c.2070A>T

1 paper

NM_021141.4

p.E690A

c.2069A>C

1 paper

NM_021141.4

p.T687N

c.2060C>A

1 paper

NM_021141.4

p.I686V

c.2056A>G

1 paper

NM_021141.4

p.V666insFs

c.1997_1998ins4

1 paper

NM_021141.4

p.Q663R

c.1988A>G

1 paper

NM_021141.4

p.F655V

c.1963T>G