Varaico: Literature-Extracted Genetic Variants

Gene:MAN2A2
Variant:p.V1101delFs

MAN2A2

70 papers

Pfam Domains

Glyco_hydro_38Naa 165–499UCSCGlycosyl hydrolases family 38 N-terminal domain
Alpha-mann_midaa 502–606UCSCAlpha mannosidase middle domain
Glyco_hydro_38Caa 765–970UCSCGlycosyl hydrolases family 38 C-terminal domain

Gene Aliases

HGNC Name

mannosidase alpha class 2A member 2

HGNC Alias Symbols

MANA2X; HsT19662; alpha-MIIx

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
3 papers
NM_006122.4
p.V1101delFs
c.3301delG
Surrounding Variants
1 paper
NM_006122.4
p.R1148C
c.3442C>T
1 paper
NM_006122.4
p.Q1098K
c.3292C>A
2 papers
NM_006122.4
p.Q1098*
c.3292C>T
1 paper
NM_006122.4
p.G1084V
c.3251G>T
1 paper
NM_006122.4
p.A1070V
c.3209C>T
2 papers
NM_006122.4
p.S1069L
c.3206C>T
1 paper
NM_006122.4
p.L1048M
c.3142C>A
1 paper
NM_006122.4
p.S1047*
c.3140C>A
1 paper
NM_006122.4
p.S1047L
c.3140C>T
1 paper
NM_006122.4
p.H1042Y
c.3124C>T
1 paper
NM_006122.4
p.R1039H
c.3116G>A
1 paper
NM_006122.4
p.P1022Q
c.3065C>A
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