Varaico: Literature-Extracted Genetic Variants

Gene:XRCC5

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
1–12 of 209 variants
4 papers
NM_021141.4
p.I636V
c.1906A>G
4 papers
NM_021141.4
p.K703_F704Splc
c.2110-2408G>A
3 papers
NM_021141.4
p.L68R
c.203T>G
3 papers
NM_021141.4
p.V113A
c.338T>C
3 papers
NM_021141.4
p.K156E
c.466A>G
3 papers
NM_021141.4
p.K238Q
c.712A>C
3 papers
NM_021141.4
p.A281T
c.841G>A
3 papers
NM_021141.4
p.S437C
c.1310C>G
3 papers
NM_021141.4
p.L536P
c.1607T>C
3 papers
NM_021141.4
p.A550S
c.1648G>T
2 papers
NM_021141.4
p.A9V
c.26C>T
2 papers
NM_021141.4
p.Q73H
c.219G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."