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.C249S

c.746G>C

Surrounding Variants

1 paper

NM_021141.4

p.C249S

c.745T>A

1 paper

NM_021141.4

p.R250Q

c.749G>A

1 paper

NM_021141.4

p.G254delFs

c.760delG

1 paper

NM_021141.4

p.E241K

c.721G>A

1 paper

NM_021141.4

p.K238N

c.714G>C

1 paper

NM_021141.4

p.K238N

c.714G>T

3 papers

NM_021141.4

p.K238Q

c.712A>C

1 paper

NM_021141.4

p.F237C

c.710T>G

1 paper

NM_021141.4

p.L234Q

c.701T>A

1 paper

NM_021141.4

p.S266L

c.797C>T

1 paper

NM_021141.4

p.S266_I267Splc

c.798+2T>G

1 paper

NM_021141.4

p.V272D

c.815T>A