Varaico: Literature-Extracted Genetic Variants

Gene:MAN2B2
Variant:p.V45L

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
1 paper
NM_015274.3
p.V45L
c.133G>T
Surrounding Variants
6 papers
NM_015274.3
p.D38N
c.112G>A
1 paper
NM_015274.3
p.H36Y
c.106C>T
1 paper
NM_015274.3
p.P8S
c.22C>T
1 paper
NM_015274.3
p.G2fs
c.4_5fs
1 paper
NM_015274.3
p.E62K
c.184G>A
2 papers
NM_015274.3
p.R71Q
c.212G>A
1 paper
NM_015274.3
p.F80Y
c.239T>A
1 paper
NM_015274.3
p.R81Q
c.242G>A
1 paper
NM_015274.3
p.A88T
c.262G>A
1 paper
NM_015274.3
p.Q95_V96Splc
c.286-42G>A
1 paper
NM_015274.3
p.R97H
c.290G>A
2 papers
NM_015274.3
p.Q128H
c.384G>C
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