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.L490R

c.1469T>G

Surrounding Variants

1 paper

NM_001469.5

p.N489S

c.1466A>G

1 paper

NM_001469.5

p.L483R

c.1448T>G

2 papers

NM_001469.5

p.P500L

c.1499C>T

2 papers

NM_001469.5

p.E479Q

c.1435G>C

1 paper

NM_001469.5

p.R474Splc

c.1422-2A>G

1 paper

NM_001469.5

p.R470C

c.1408C>T

1 paper

NM_001469.5

p.E467V

c.1400A>T

1 paper

NM_001469.5

p.K463R

c.1388A>G

1 paper

NM_001469.5

p.M462I

c.1386G>A

1 paper

NM_001469.5

p.M462I

c.1386G>C

1 paper

NM_001469.5

p.M462I

c.1386G>T

1 paper

NM_001469.5

p.K461K

c.1383G>A