Varaico: Literature-Extracted Genetic Variants

Gene:MAN2B2

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
1–12 of 109 variants
6 papers
NM_015274.3
p.D38N
c.112G>A
5 papers
NM_015274.3
p.V320M
c.958G>A
4 papers
NM_015274.3
p.G624R
c.1870G>A
4 papers
NM_015274.3
p.G624R
c.1870G>C
3 papers
NM_015274.3
p.S147del1
c.439_440delTCC
3 papers
NM_015274.3
p.E790K
c.2368G>A
3 papers
NM_015274.3
p.T892M
c.2675C>T
2 papers
NM_015274.3
p.R71Q
c.212G>A
2 papers
NM_015274.3
p.Q128H
c.384G>C
2 papers
NM_015274.3
p.Q128H
c.384G>T
2 papers
NM_015274.3
p.R278Q
c.833G>A
2 papers
NM_015274.3
p.I309N
c.926T>A
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