Varaico: Literature-Extracted Genetic Variants

Gene:MAN1A2
Variant:p.R492G

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.R492G
c.1474C>G
Surrounding Variants
1 paper
NM_006699.5
p.Y483*
c.1449T>A
1 paper
NM_006699.5
p.Y483*
c.1449T>G
1 paper
NM_006699.5
p.A461T
c.1381G>A
1 paper
NM_006699.5
p.H433L
c.1298A>T
1 paper
NM_006699.5
p.E517E
c.1551G>A
1 paper
NM_006699.5
p.W553C
c.1659G>T
1 paper
NM_006699.5
p.L559_A560Splc
c.1677+33G>A
1 paper
NM_006699.5
p.G398*
c.1192G>T
2 papers
NM_006699.5
p.H391D
c.1171C>G
1 paper
NM_006699.5
p.C565fs
c.1693_1694fs
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