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

3 papers

NM_021141.4

p.V113A

c.338T>C

Surrounding Variants

1 paper

NM_021141.4

p.L111R

c.332T>G

2 papers

NM_021141.4

p.L108P

c.323T>C

1 paper

NM_021141.4

p.F107fs

c.319_320fs

1 paper

NM_021141.4

p.T122I

c.365C>T

1 paper

NM_021141.4

p.I123Splc

c.368+2T>C

1 paper

NM_021141.4

p.F107Splc

c.319+2T>A

1 paper

NM_021141.4

p.F107Splc

c.319+2T>C

1 paper

NM_021141.4

p.F107Splc

c.319+1G>A

1 paper

NM_021141.4

p.A105D

c.314C>A

1 paper

NM_021141.4

p.Q104*

c.310C>T

1 paper

NM_021141.4

p.Q103_Q104insFs

c.309_310ins25

1 paper

NM_021141.4

p.Q103L

c.308A>T