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.N98I

c.293A>T

Surrounding Variants

1 paper

NM_001469.5

p.D93D

c.279C>T

2 papers

NM_001469.5

p.Y103N

c.307T>A

1 paper

NM_001469.5

p.Y103F

c.308A>T

2 papers

NM_001469.5

p.K92R

c.275A>G

1 paper

NM_001469.5

p.T90T

c.270C>T

1 paper

NM_001469.5

p.T90S

c.269C>G

2 papers

NM_001469.5

p.T90I

c.269C>T

1 paper

NM_001469.5

p.T90S

c.268A>T

1 paper

NM_001469.5

p.Y88F

c.263A>T

1 paper

NM_001469.5

p.F87L

c.261C>A

1 paper

NM_001469.5

p.F87L

c.261C>G

1 paper

NM_001469.5

p.F87L

c.259T>C