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.G60G

c.180T>A

Surrounding Variants

1 paper

NM_021141.4

p.D62H

c.184G>C

1 paper

NM_021141.4

p.D65N

c.193G>A

1 paper

NM_021141.4

p.L56_D62del0

c.168_185del18

1 paper

NM_021141.4

p.P67S

c.199C>T

3 papers

NM_021141.4

p.L68R

c.203T>G

1 paper

NM_021141.4

p.K51M

c.152A>T

2 papers

NM_021141.4

p.Q73H

c.219G>C

2 papers

NM_021141.4

p.Q73H

c.219G>T

1 paper

NM_021141.4

p.Y74C

c.221A>G

1 paper

NM_021141.4

p.Q45_V46Splc

c.136-1G>C

1 paper

NM_021141.4

p.H82Q

c.246T>G

1 paper

NM_021141.4

p.D93D

c.279C>T