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.E145K

c.433G>A

Surrounding Variants

1 paper

NM_001469.5

p.C150S

c.448T>A

1 paper

NM_001469.5

p.C150R

c.448T>C

1 paper

NM_001469.5

p.C150S

c.449G>C

1 paper

NM_001469.5

p.S139S

c.417T>A

1 paper

NM_001469.5

p.S139P

c.415T>C

2 papers

NM_001469.5

p.S139A

c.415T>G

1 paper

NM_001469.5

p.S155N

c.464G>A

1 paper

NM_001469.5

p.D156A

c.467A>C

1 paper

NM_001469.5

p.G127G

c.381A>G

1 paper

NM_001469.5

p.G127E

c.380G>A

1 paper

NM_001469.5

p.R165S

c.495G>C

1 paper

NM_001469.5

p.R165S

c.495G>T