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.S4G

c.10A>G

Surrounding Variants

1 paper

NM_005216.5

p.A6G

c.17C>G

2 papers

NM_005216.5

p.A7T

c.19G>A

1 paper

NM_005216.5

p.A7G

c.20C>G

14 papers

NM_005216.5

p.R8G

c.22C>G

1 paper

NM_005216.5

p.L37F

c.109C>T

1 paper

NM_005216.5

p.V39V

c.117G>A

1 paper

NM_005216.5

p.R40Q

c.119G>A

1 paper

NM_005216.5

p.F46insFs

c.138dupC

1 paper

NM_005216.5

p.F47fs

c.139_140fs

1 paper

NM_005216.5

p.F47L

c.141C>G

1 paper

NM_005216.5

p.R48W

c.142C>T

1 paper

NM_005216.5

p.D52N

c.154G>A