Varaico: Literature-Extracted Genetic Variants

Gene:MANEA
Variant:p.M23I

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.M23I
c.69G>C
Surrounding Variants
1 paper
NM_024641.4
p.M23I
c.69G>A
1 paper
NM_024641.4
p.M23I
c.69G>T
1 paper
NM_024641.4
p.C9W
c.27C>G
1 paper
NM_024641.4
p.R5Q
c.14G>A
1 paper
NM_024641.4
p.R5W
c.13C>T
1 paper
NM_024641.4
p.R51*
c.151C>T
1 paper
NM_024641.4
p.K57E
c.169A>G
1 paper
NM_024641.4
p.N58I
c.173A>T
1 paper
NM_024641.4
p.D60Y
c.178G>T
1 paper
NM_024641.4
p.D65delFs
c.194delA
1 paper
NM_024641.4
p.T82I
c.245C>T
1 paper
NM_024641.4
p.H122R
c.365A>G
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."