Varaico: Literature-Extracted Genetic Variants

Gene:MAN2A2
Variant:p.R560Q

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
2 papers
NM_006122.4
p.R560Q
c.1679G>A
Surrounding Variants
1 paper
NM_006122.4
p.D570N
c.1708G>A
1 paper
NM_006122.4
p.L550P
c.1649T>C
1 paper
NM_006122.4
p.R540H
c.1619G>A
1 paper
NM_006122.4
p.V530A
c.1589T>C
1 paper
NM_006122.4
p.I600T
c.1799T>C
1 paper
NM_006122.4
p.A602G
c.1805C>G
1 paper
NM_006122.4
p.R526W
c.1576C>T
1 paper
NM_006122.4
p.R499Q
c.1496G>A
1 paper
NM_006122.4
p.E478*
c.1432G>T
1 paper
NM_006122.4
p.Y467C
c.1400A>G
1 paper
NM_006122.4
p.R638S
c.1912C>A
1 paper
NM_006122.4
p.N654N
c.1962C>T
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