Varaico: Literature-Extracted Genetic Variants

Gene:MAN2A2
Variant:p.S198N

MAN2A2

70 papers

Pfam Domains

Glyco_hydro_38Naa 165–499UCSCGlycosyl hydrolases family 38 N-terminal domain
Alpha-mann_midaa 502–606UCSCAlpha mannosidase middle domain
Glyco_hydro_38Caa 765–970UCSCGlycosyl hydrolases family 38 C-terminal domain

Gene Aliases

HGNC Name

mannosidase alpha class 2A member 2

HGNC Alias Symbols

MANA2X; HsT19662; alpha-MIIx

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006122.4
p.S198N
c.593G>A
Surrounding Variants
1 paper
NM_006122.4
p.K202E
c.604A>G
1 paper
NM_006122.4
p.H194R
c.581A>G
1 paper
NM_006122.4
p.R209Q
c.626G>A
1 paper
NM_006122.4
p.R210H
c.629G>A
1 paper
NM_006122.4
p.A163V
c.488C>T
1 paper
NM_006122.4
p.D160N
c.478G>A
1 paper
NM_006122.4
p.V134V
c.402G>A
1 paper
NM_006122.4
p.T133S
c.397A>T
1 paper
NM_006122.4
p.L120fs
c.358_359fs
1 paper
NM_006122.4
p.A119delFs
c.357delT
1 paper
NM_006122.4
p.V94I
c.280G>A
1 paper
NM_006122.4
p.T93M
c.278C>T
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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."