Varaico: Literature-Extracted Genetic Variants

Gene:MANEA
Variant:p.N194del1

MANEA

45 papers

RefSeq Summary

N-glycosylation of proteins is initiated in the endoplasmic reticulum (ER) by the transfer of the preassembled oligosaccharide glucose-3-mannose-9-N-acetylglucosamine-2 from dolichyl pyrophosphate to ...

Pfam Domains

Glyco_hydro_99aa 98–448UCSCGlycosyl hydrolase family 99

Gene Aliases

HGNC Name

mannosidase endo-alpha

HGNC Alias Symbols

FLJ12838; mandaselin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_024641.4
p.N194del1
c.580_581delAAT
Surrounding Variants
1 paper
NM_024641.4
p.P191insFs
c.572_573dupCT
1 paper
NM_024641.4
p.P190R
c.569C>G
1 paper
NM_024641.4
p.Y189_P190insFs
c.567_568ins8
2 papers
NM_024641.4
p.Y189_P190insFs
c.567_568ins4
1 paper
NM_024641.4
p.Y189ins2
c.566_567ins6
1 paper
NM_024641.4
p.Y189C
c.566A>G
1 paper
NM_024641.4
p.Y189fs
c.565_566fs
1 paper
NM_024641.4
p.W188C
c.564G>C
1 paper
NM_024641.4
p.W188C
c.564G>T
1 paper
NM_024641.4
p.H222Y
c.664C>T
1 paper
NM_024641.4
p.S227_D243delFs
c.681_727del47
1 paper
NM_024641.4
p.Y254*
c.762C>A
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