Varaico: Literature-Extracted Genetic Variants

Gene:MAN1A2
Variant:p.I167L

MAN1A2

48 papers

RefSeq Summary

Alpha-mannosidases function at different stages of N-glycan maturation in mammalian cells. See MAN2A1 (MIM 154582) for general information.[supplied by OMIM, Mar 2008].

Pfam Domains

Glyco_hydro_47aa 187–626UCSCGlycosyl hydrolase family 47

Gene Aliases

HGNC Name

mannosidase alpha class 1A member 2

HGNC Previous Name

mannosidase, alpha, class 1A, member 2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_006699.5
p.I167L
c.499A>T
Surrounding Variants
1 paper
NM_006699.5
p.I167L
c.499A>C
1 paper
NM_006699.5
p.R168C
c.502C>T
1 paper
NM_006699.5
p.P155T
c.463C>A
1 paper
NM_006699.5
p.K154M
c.461A>T
1 paper
NM_006699.5
p.N153K
c.459C>A
1 paper
NM_006699.5
p.N153K
c.459C>G
1 paper
NM_006699.5
p.K180N
c.540A>C
1 paper
NM_006699.5
p.K180N
c.540A>T
1 paper
NM_006699.5
p.E182K
c.544G>A
1 paper
NM_006699.5
p.E182G
c.545A>G
1 paper
NM_006699.5
p.I150K
c.449T>A
1 paper
NM_006699.5
p.K185*
c.553A>T
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."