Varaico: Literature-Extracted Genetic Variants

Gene:MAN2B2
Variant:p.R911H

MAN2B2

94 papers

Pfam Domains

Glyco_hydro_38Naa 26–353UCSCGlycosyl hydrolases family 38 N-terminal domain
Alpha-mann_midaa 356–456UCSCAlpha mannosidase middle domain
Glyco_hydro_38Caa 583–800UCSCGlycosyl hydrolases family 38 C-terminal domain

Gene Aliases

HGNC Name

mannosidase alpha class 2B member 2

HGNC Alias Symbols

KIAA0935; EpMAN

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_015274.3
p.R911H
c.2732G>A
Surrounding Variants
1 paper
NM_015274.3
p.R912H
c.2735G>A
1 paper
NM_015274.3
p.V935L
c.2803G>C
1 paper
NM_015274.3
p.V935L
c.2803G>T
1 paper
NM_015274.3
p.A939A
c.2817T>C
2 papers
NM_015274.3
p.T971M
c.2912C>T
3 papers
NM_015274.3
p.T892M
c.2675C>T
1 paper
NM_015274.3
p.R886C
c.2656C>T
2 papers
NM_015274.3
p.P858L
c.2573C>T
1 paper
NM_015274.3
p.E998G
c.2993A>G
1 paper
NM_015274.3
p.G851R
c.2551G>A
1 paper
NM_015274.3
p.G851R
c.2551G>C
1 paper
NM_015274.3
p.V847M
c.2539G>A
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