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.K182R

c.545A>G

Surrounding Variants

1 paper

NM_001469.5

p.A183D

c.548C>A

1 paper

NM_001469.5

p.T188A

c.562A>G

1 paper

NM_001469.5

p.H176Y

c.526C>T

1 paper

NM_001469.5

p.P175T

c.523C>A

1 paper

NM_001469.5

p.G191S

c.571G>A

1 paper

NM_001469.5

p.G191C

c.571G>T

1 paper

NM_001469.5

p.D173A

c.518A>C

1 paper

NM_001469.5

p.G191D

c.572G>A

1 paper

NM_001469.5

p.D192A

c.575A>C

1 paper

NM_001469.5

p.R194*

c.580C>T

1 paper

NM_001469.5

p.G197Splc

c.589+1G>T

1 paper

NM_001469.5

p.R165S

c.495G>C