Varaico: Literature-Extracted Genetic Variants

DDOST

73 papers

RefSeq Summary

This gene encodes a component of the oligosaccharyltransferase complex which catalyzes the transfer of high-mannose oligosaccharides to asparagine residues on nascent polypeptides in the lumen of the ...

Pfam Domains

OST48_Naa 29–282UCSCOST48, N-terminal domain

OST48_MDaa 296–433UCSCOST48 middle domain

Gene Aliases

HGNC Name

dolichyl-diphosphooligosaccharide--protein glycosyltransferase non-catalytic subunit

HGNC Alias Symbols

KIAA0115; OST48

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005216.5

p.T168A

c.502A>G

Surrounding Variants

1 paper

NM_005216.5

p.V170I

c.508G>A

1 paper

NM_005216.5

p.V170A

c.509T>C

3 papers

NM_005216.5

p.T154M

c.461C>T

1 paper

NM_005216.5

p.G182S

c.544G>A

1 paper

NM_005216.5

p.G184R

c.550G>A

1 paper

NM_005216.5

p.H143D

c.427C>G

1 paper

NM_005216.5

p.F132S

c.395T>C

1 paper

NM_005216.5

p.S126insFs

c.376dupA

1 paper

NM_005216.5

p.D119E

c.357C>A

1 paper

NM_005216.5

p.G106R

c.316G>A

1 paper

NM_005216.5

p.G105G

c.315C>T

1 paper

NM_005216.5

p.T98A

c.292A>G