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

1–12 of 97 variants

14 papers

NM_005216.5

p.R8G

c.22C>G

4 papers

NM_005216.5

p.L422_F429delFs

c.1265_1286del22

3 papers

NM_005216.5

p.T154M

c.461C>T

2 papers

NM_005216.5

p.A7T

c.19G>A

2 papers

NM_005216.5

p.G200D

c.599G>A

2 papers

NM_005216.5

p.S204P

c.610T>C

2 papers

NM_005216.5

p.I227V

c.679A>G

2 papers

NM_005216.5

p.R237C

c.709C>T

2 papers

NM_005216.5

p.R237H

c.710G>A

2 papers

NM_005216.5

p.L364fs

c.1090_1091fs

2 papers

NM_005216.5

p.L364insFs

c.1091dupT

2 papers

NM_005216.5

p.R379Q

c.1136G>A