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.G200D

c.599G>A

Surrounding Variants

1 paper

NM_005216.5

p.T199M

c.596C>T

1 paper

NM_005216.5

p.L198L

c.592C>T

2 papers

NM_005216.5

p.S204P

c.610T>C

1 paper

NM_005216.5

p.S206P

c.616T>C

1 paper

NM_005216.5

p.F207V

c.619T>G

1 paper

NM_005216.5

p.N191K

c.573C>G

1 paper

NM_005216.5

p.N191K

c.573C>A

1 paper

NM_005216.5

p.D190E

c.570T>G

1 paper

NM_005216.5

p.D190E

c.570T>A

1 paper

NM_005216.5

p.S206_K211del6

c.616_632del18

1 paper

NM_005216.5

p.Q215H

c.645G>T

1 paper

NM_005216.5

p.Q215H

c.645G>C