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.F350F

c.1050C>T

Surrounding Variants

1 paper

NM_005216.5

p.K354del1

c.1060_1061delTTT

1 paper

NM_005216.5

p.V319M

c.955G>A

1 paper

NM_005216.5

p.I318N

c.953T>A

2 papers

NM_005216.5

p.L364fs

c.1090_1091fs

2 papers

NM_005216.5

p.L364insFs

c.1091dupT

1 paper

NM_005216.5

p.D366N

c.1096G>A

1 paper

NM_005216.5

p.G369delFs

c.1105delC

1 paper

NM_005216.5

p.K374E

c.1120A>G

2 papers

NM_005216.5

p.R379Q

c.1136G>A

1 paper

NM_005216.5

p.T383I

c.1148C>T

1 paper

NM_005216.5

p.H384R

c.1151A>G

1 paper

NM_005216.5

p.H384P

c.1151A>C