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.G26D

c.77G>A

Surrounding Variants

1 paper

NM_021141.4

p.I27L

c.79A>C

1 paper

NM_021141.4

p.S29A

c.85T>G

1 paper

NM_021141.4

p.N22Y

c.64A>T

1 paper

NM_021141.4

p.S21C

c.61A>T

1 paper

NM_021141.4

p.K35N

c.105G>C

1 paper

NM_021141.4

p.K35N

c.105G>T

1 paper

NM_021141.4

p.V16M

c.46G>A

1 paper

NM_021141.4

p.V37M

c.109G>A

1 paper

NM_021141.4

p.V10A

c.29T>C

2 papers

NM_021141.4

p.A9V

c.26C>T

1 paper

NM_021141.4

p.Q45_V46Splc

c.135+2T>A

1 paper

NM_021141.4

p.Q45_V46Splc

c.136-1G>C