Varaico: Literature-Extracted Genetic Variants

Gene:MANEA

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
1–12 of 44 variants
3 papers
NM_024641.4
p.R177C
c.529C>T
2 papers
NM_024641.4
p.Y189_P190insFs
c.567_568ins4
2 papers
NM_024641.4
p.F344I
c.1030T>A
2 papers
NM_024641.4
p.R457H
c.1370G>A
1 paper
NM_024641.4
p.R5W
c.13C>T
1 paper
NM_024641.4
p.R5Q
c.14G>A
1 paper
NM_024641.4
p.C9W
c.27C>G
1 paper
NM_024641.4
p.M23I
c.69G>A
1 paper
NM_024641.4
p.M23I
c.69G>C
1 paper
NM_024641.4
p.M23I
c.69G>T
1 paper
NM_024641.4
p.R51*
c.151C>T
1 paper
NM_024641.4
p.K57E
c.169A>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."