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

2 papers

NM_005216.5

p.I227V

c.679A>G

Surrounding Variants

1 paper

NM_005216.5

p.L226F

c.676C>T

1 paper

NM_005216.5

p.V220A

c.659T>C

2 papers

NM_005216.5

p.R237C

c.709C>T

2 papers

NM_005216.5

p.R237H

c.710G>A

1 paper

NM_005216.5

p.V238I

c.712G>A

1 paper

NM_005216.5

p.S243A

c.727T>G

1 paper

NM_005216.5

p.S243F

c.728C>T

1 paper

NM_005216.5

p.D245N

c.733G>A

1 paper

NM_005216.5

p.F251S

c.752T>C

1 paper

NM_005216.5

p.F252del1

c.754_755delGAA

1 paper

NM_005216.5

p.S254P

c.760T>C

1 paper

NM_005216.5

p.A255T

c.763G>A