Varaico: Literature-Extracted Genetic Variants

Gene:MAN2B2
Variant:p.G624R

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
4 papers
NM_015274.3
p.G624R
c.1870G>A
Surrounding Variants
4 papers
NM_015274.3
p.G624R
c.1870G>C
1 paper
NM_015274.3
p.V626V
c.1878G>A
1 paper
NM_015274.3
p.G629S
c.1885G>A
1 paper
NM_015274.3
p.G629V
c.1886G>T
1 paper
NM_015274.3
p.Q615*
c.1843C>T
1 paper
NM_015274.3
p.D633N
c.1897G>A
1 paper
NM_015274.3
p.D633G
c.1898A>G
1 paper
NM_015274.3
p.P639L
c.1916C>T
1 paper
NM_015274.3
p.A642fs
c.1924_1925fs
1 paper
NM_015274.3
p.A642delFs
c.1925delC
1 paper
NM_015274.3
p.A643T
c.1927G>A
1 paper
NM_015274.3
p.A643V
c.1928C>T
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