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

4 papers

NM_021141.4

p.K703_F704Splc

c.2110-2408G>A

Surrounding Variants

1 paper

NM_021141.4

p.D714A

c.2141A>C

1 paper

NM_021141.4

p.T715A

c.2143A>G

2 papers

NM_021141.4

p.E720A

c.2159A>C

1 paper

NM_021141.4

p.E721K

c.2161G>A

2 papers

NM_021141.4

p.E721A

c.2162A>C

1 paper

NM_021141.4

p.G722A

c.2165G>C

1 paper

NM_021141.4

p.D724A

c.2171A>C

2 papers

NM_021141.4

p.D726A

c.2177A>C

1 paper

NM_021141.4

p.D726G

c.2177A>G

2 papers

NM_021141.4

p.D727A

c.2180A>C

1 paper

NM_021141.4

p.D730N

c.2188G>A

1 paper

NM_021141.4

p.D730A

c.2189A>C