Varaico: Literature-Extracted Genetic Variants

Gene:MANEA
Variant:p.R457H

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
2 papers
NM_024641.4
p.R457H
c.1370G>A
Surrounding Variants
1 paper
NM_024641.4
p.R428L
c.1283G>T
1 paper
NM_024641.4
p.V415F
c.1243G>T
1 paper
NM_024641.4
p.E407E
c.1221A>G
1 paper
NM_024641.4
p.E404Q
c.1210G>C
1 paper
NM_024641.4
p.R393C
c.1177C>T
1 paper
NM_024641.4
p.R374Q
c.1121G>A
1 paper
NM_024641.4
p.L350S
c.1049T>C
2 papers
NM_024641.4
p.F344I
c.1030T>A
1 paper
NM_024641.4
p.L341L
c.1021C>T
1 paper
NM_024641.4
p.Y331C
c.992A>G
1 paper
NM_024641.4
p.R291H
c.872G>A
1 paper
NM_024641.4
p.R288L
c.863G>T
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