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.V272D

c.815T>A

Surrounding Variants

1 paper

NM_021141.4

p.W276R

c.826T>A

1 paper

NM_021141.4

p.W276R

c.826T>C

3 papers

NM_021141.4

p.A281T

c.841G>A

1 paper

NM_021141.4

p.T283A

c.847A>G

1 paper

NM_021141.4

p.K285R

c.854A>G

1 paper

NM_021141.4

p.E292A

c.875A>C

1 paper

NM_021141.4

p.N298D

c.892A>G

1 paper

NM_021141.4

p.D301A

c.902A>C

1 paper

NM_021141.4

p.E304A

c.911A>C

1 paper

NM_021141.4

p.S266_I267Splc

c.798+2T>G

1 paper

NM_021141.4

p.S266L

c.797C>T

1 paper

NM_021141.4

p.G254delFs

c.760delG