Varaico: Literature-Extracted Genetic Variants

Gene:MAN2A2
Variant:p.N654N

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.N654N
c.1962C>T
Surrounding Variants
1 paper
NM_006122.4
p.F661F
c.1983C>T
1 paper
NM_006122.4
p.L676F
c.2026C>T
1 paper
NM_006122.4
p.S677L
c.2030C>T
1 paper
NM_006122.4
p.R638S
c.1912C>A
1 paper
NM_006122.4
p.A602G
c.1805C>G
1 paper
NM_006122.4
p.I600T
c.1799T>C
1 paper
NM_006122.4
p.V706M
c.2116G>A
1 paper
NM_006122.4
p.P707S
c.2119C>T
1 paper
NM_006122.4
p.R728C
c.2182C>T
1 paper
NM_006122.4
p.Y737H
c.2209T>C
1 paper
NM_006122.4
p.D570N
c.1708G>A
1 paper
NM_006122.4
p.H748H
c.2244C>T
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