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

1–12 of 195 variants

3 papers

NM_001469.5

p.K424fs

c.1270_1271fs

2 papers

NM_001469.5

p.S33A

c.97T>G

2 papers

NM_001469.5

p.T90I

c.269C>T

2 papers

NM_001469.5

p.K92R

c.275A>G

2 papers

NM_001469.5

p.Y103N

c.307T>A

2 papers

NM_001469.5

p.S139A

c.415T>G

2 papers

NM_001469.5

p.C389S

c.1165T>A

2 papers

NM_001469.5

p.C389S

c.1166G>C

2 papers

NM_001469.5

p.C398S

c.1192T>A

2 papers

NM_001469.5

p.C398S

c.1193G>C

2 papers

NM_001469.5

p.E479Q

c.1435G>C

2 papers

NM_001469.5

p.P500L

c.1499C>T