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.M389I

c.1167G>A

Surrounding Variants

1 paper

NM_021141.4

p.M389I

c.1167G>C

1 paper

NM_021141.4

p.M389I

c.1167G>T

1 paper

NM_021141.4

p.A396V

c.1187C>T

2 papers

NM_021141.4

p.K399R

c.1196A>G

1 paper

NM_021141.4

p.P403delFs

c.1209delT

1 paper

NM_021141.4

p.Q404*

c.1210C>T

1 paper

NM_021141.4

p.V375F

c.1123G>T

1 paper

NM_021141.4

p.V405I

c.1213G>A

1 paper

NM_021141.4

p.P410L

c.1229C>T

1 paper

NM_021141.4

p.H411D

c.1231C>G

1 paper

NM_021141.4

p.H411Y

c.1231C>T

1 paper

NM_021141.4

p.H411Q

c.1233T>A