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

2 papers

NM_001469.5

p.C389S

c.1166G>C

Surrounding Variants

2 papers

NM_001469.5

p.C389S

c.1165T>A

1 paper

NM_001469.5

p.E391V

c.1172A>T

1 paper

NM_001469.5

p.L385R

c.1154T>G

1 paper

NM_001469.5

p.A396V

c.1187C>T

1 paper

NM_001469.5

p.L381R

c.1142T>G

2 papers

NM_001469.5

p.C398S

c.1192T>A

2 papers

NM_001469.5

p.C398S

c.1193G>C

1 paper

NM_001469.5

p.S378R

c.1134C>A

1 paper

NM_001469.5

p.S378R

c.1134C>G

1 paper

NM_001469.5

p.S378R

c.1132A>C

1 paper

NM_001469.5

p.R403H

c.1208G>A

1 paper

NM_001469.5

p.R403delFs

c.1209delC