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.I405fs

c.1213_1214fs

Surrounding Variants

1 paper

NM_005216.5

p.I405fs

c.1213_1214fs

1 paper

NM_005216.5

p.Y401S

c.1202A>C

1 paper

NM_005216.5

p.Y409Y

c.1227C>T

2 papers

NM_005216.5

p.T399M

c.1196C>T

2 papers

NM_005216.5

p.I405_Y412delFs

c.1214_1235del22

1 paper

NM_005216.5

p.V393M

c.1177G>A

1 paper

NM_005216.5

p.F425Y

c.1274T>A

4 papers

NM_005216.5

p.L422_F429delFs

c.1265_1286del22

1 paper

NM_005216.5

p.K435del1

c.1303_1305delCTT

1 paper

NM_005216.5

p.D439N

c.1315G>A

1 paper

NM_005216.5

p.Q390*

c.1168C>T

1 paper

NM_005216.5

p.T389T

c.1167T>C