Varaico: Literature-Extracted Genetic Variants

Gene:MAN2B2
Variant:p.Y328delFs

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.Y328delFs
c.984delC
Surrounding Variants
1 paper
NM_015274.3
p.Y328fs
c.982_983fs
1 paper
NM_015274.3
p.F329fs
c.985_986fs
1 paper
NM_015274.3
p.F329fs
c.985_986fs
1 paper
NM_015274.3
p.T324M
c.971C>T
1 paper
NM_015274.3
p.L332L
c.996G>A
5 papers
NM_015274.3
p.V320M
c.958G>A
1 paper
NM_015274.3
p.R342H
c.1025G>A
2 papers
NM_015274.3
p.I309N
c.926T>A
1 paper
NM_015274.3
p.L305V
c.913C>G
1 paper
NM_015274.3
p.M302K
c.905T>A
1 paper
NM_015274.3
p.W286_G287Splc
c.859-5T>C
1 paper
NM_015274.3
p.P285P
c.855C>T
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