Varaico: Literature-Extracted Genetic Variants

XRCC6

319 papers

RefSeq Summary

The p70/p80 autoantigen is a nuclear complex consisting of two subunits with molecular masses of approximately 70 and 80 kDa. The complex functions as a single-stranded DNA-dependent ATP-dependent hel...

Pfam Domains

Ku_Naa 37–256UCSCKu70/Ku80 N-terminal alpha/beta domain

Kuaa 263–461UCSCKu70/Ku80 beta-barrel domain

Ku_Caa 472–556UCSCKu70/Ku80 C-terminal arm

SAPaa 572–608UCSCSAP domain

Gene Aliases

HGNC Name

X-ray repair cross complementing 6

HGNC Previous Symbol

G22P1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001469.5

p.K46R

c.137A>G

Surrounding Variants

1 paper

NM_001469.5

p.S51A

c.151T>G

1 paper

NM_001469.5

p.I39M

c.117T>G

1 paper

NM_001469.5

p.L41delFs

c.122delT

1 paper

NM_001469.5

p.E54V

c.161A>T

1 paper

NM_001469.5

p.G34R

c.100G>A

1 paper

NM_001469.5

p.G34R

c.100G>C

2 papers

NM_001469.5

p.S33A

c.97T>G

1 paper

NM_001469.5

p.F60L

c.180T>A

1 paper

NM_001469.5

p.K31K

c.93A>G

1 paper

NM_001469.5

p.K31R

c.92A>G

1 paper

NM_001469.5

p.D61V

c.182A>T

1 paper

NM_001469.5

p.Y30C

c.89A>G