Varaico: Literature-Extracted Genetic Variants

Gene:MAN1A2

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
1–12 of 53 variants
2 papers
NM_006699.5
p.H391D
c.1171C>G
2 papers
NM_006699.5
p.A630T
c.1888G>A
1 paper
NM_006699.5
p.A5T
c.13G>A
1 paper
NM_006699.5
p.A53G
c.158C>G
1 paper
NM_006699.5
p.H93Y
c.277C>T
1 paper
NM_006699.5
p.L107L
c.319C>T
1 paper
NM_006699.5
p.N109fs
c.325_326fs
1 paper
NM_006699.5
p.R112Q
c.335G>A
1 paper
NM_006699.5
p.Q138Q
c.414G>A
1 paper
NM_006699.5
p.I150K
c.449T>A
1 paper
NM_006699.5
p.N153K
c.459C>A
1 paper
NM_006699.5
p.N153K
c.459C>G
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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."