Varaico: Literature-Extracted Genetic Variants

Gene:MAN1C1
Variant:p.K470N

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
1 paper
NM_020379.4
p.K470N
c.1410G>T
Surrounding Variants
1 paper
NM_020379.4
p.K470N
c.1410G>C
1 paper
NM_020379.4
p.Q480H
c.1440G>C
1 paper
NM_020379.4
p.Q480H
c.1440G>T
1 paper
NM_020379.4
p.H486Y
c.1456C>T
1 paper
NM_020379.4
p.R491P
c.1472G>C
1 paper
NM_020379.4
p.K447R
c.1340A>G
1 paper
NM_020379.4
p.G441fs
c.1321_1322fs
1 paper
NM_020379.4
p.R440*
c.1318C>T
1 paper
NM_020379.4
p.L433fs
c.1297_1298fs
2 papers
NM_020379.4
p.G432insFs
c.1296dupG
1 paper
NM_020379.4
p.D493Splc
c.1478-1G>A
1 paper
NM_020379.4
p.W502*
c.1505G>A
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