Varaico: Literature-Extracted Genetic Variants

Gene:MAN2B2
Variant:p.S215C

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.S215C
c.643A>T
Surrounding Variants
1 paper
NM_015274.3
p.I222I
c.666C>T
1 paper
NM_015274.3
p.R227Splc
c.680+70G>T
1 paper
NM_015274.3
p.R188W
c.562C>T
1 paper
NM_015274.3
p.D179N
c.535G>A
1 paper
NM_015274.3
p.R175Q
c.524G>A
1 paper
NM_015274.3
p.T159A
c.475A>G
3 papers
NM_015274.3
p.S147del1
c.439_440delTCC
1 paper
NM_015274.3
p.I142V
c.424A>G
1 paper
NM_015274.3
p.N233D
c.697A>G
1 paper
NM_015274.3
p.Q243fs
c.727_728fs
1 paper
NM_015274.3
p.Q243P
c.728A>C
1 paper
NM_015274.3
p.N249H
c.745A>C
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