Varaico: Literature-Extracted Genetic Variants

Gene:MAN1C1
Variant:p.Q535Q

MAN1C1

41 papers

Pfam Domains

Glyco_hydro_47aa 1–388UCSCGlycosyl hydrolase family 47
Glyco_hydro_47aa 181–617UCSCGlycosyl hydrolase family 47

Gene Aliases

HGNC Name

mannosidase alpha class 1C member 1

HGNC Alias Symbol

HMIC

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_020379.4
p.Q535Q
c.1605G>A
Surrounding Variants
1 paper
NM_020379.4
p.V510M
c.1528G>A
1 paper
NM_020379.4
p.W502*
c.1506G>A
1 paper
NM_020379.4
p.W502*
c.1505G>A
1 paper
NM_020379.4
p.D493Splc
c.1478-1G>A
2 papers
NM_020379.4
p.G561S
c.1681G>A
1 paper
NM_020379.4
p.P573L
c.1718C>T
1 paper
NM_020379.4
p.K589Splc
c.1767-11G>A
1 paper
NM_020379.4
p.Y592S
c.1775A>C
1 paper
NM_020379.4
p.A612V
c.1835C>T
1 paper
NM_020379.4
p.H613D
c.1837C>G
1 paper
NM_020379.4
p.V617M
c.1849G>A
1 paper
NM_020379.4
p.R491P
c.1472G>C
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