Varaico: Literature-Extracted Genetic Variants

Gene:MAN2A2
Variant:p.K823_P824Splc

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.K823_P824Splc
c.2470-1G>A
Surrounding Variants
1 paper
NM_006122.4
p.P827L
c.2480C>T
1 paper
NM_006122.4
p.K828R
c.2483A>G
1 paper
NM_006122.4
p.V832fs
c.2494_2495fs
1 paper
NM_006122.4
p.E843V
c.2528A>T
1 paper
NM_006122.4
p.Q853E
c.2557C>G
1 paper
NM_006122.4
p.L860V
c.2578C>G
1 paper
NM_006122.4
p.S783N
c.2348G>A
1 paper
NM_006122.4
p.I897V
c.2689A>G
1 paper
NM_006122.4
p.Q906*
c.2716C>T
1 paper
NM_006122.4
p.H748H
c.2244C>T
1 paper
NM_006122.4
p.Y737H
c.2209T>C
1 paper
NM_006122.4
p.R728C
c.2182C>T
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