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

2 papers

NM_021141.4

p.T524T

c.1572A>G

Surrounding Variants

2 papers

NM_021141.4

p.T524I

c.1571C>T

1 paper

NM_021141.4

p.V522V

c.1566G>A

1 paper

NM_021141.4

p.A520T

c.1558G>A

1 paper

NM_021141.4

p.S531T

c.1591T>A

1 paper

NM_021141.4

p.S531F

c.1592C>T

1 paper

NM_021141.4

p.K534R

c.1601A>G

1 paper

NM_021141.4

p.W513*

c.1539G>A

1 paper

NM_021141.4

p.L536V

c.1606C>G

1 paper

NM_021141.4

p.W513*

c.1538G>A

3 papers

NM_021141.4

p.L536P

c.1607T>C

1 paper

NM_021141.4

p.P506S

c.1516C>T

1 paper

NM_021141.4

p.K545R

c.1634A>G