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.D148E

c.444T>G

Surrounding Variants

1 paper

NM_021141.4

p.D148E

c.444T>A

2 papers

NM_021141.4

p.I151V

c.451A>G

1 paper

NM_021141.4

p.S153R

c.457A>C

1 paper

NM_021141.4

p.S153R

c.459C>A

1 paper

NM_021141.4

p.S153R

c.459C>G

3 papers

NM_021141.4

p.K156E

c.466A>G

1 paper

NM_021141.4

p.R141*

c.421C>T

1 paper

NM_021141.4

p.L161L

c.481C>T

1 paper

NM_021141.4

p.Q162E

c.484C>G

2 papers

NM_021141.4

p.F164I

c.490T>A

1 paper

NM_021141.4

p.E133insFs

c.398_399insA

1 paper

NM_021141.4

p.H131R

c.392A>G