Varaico: Literature-Extracted Genetic Variants

Gene:EDEM1
Variant:p.V103M

EDEM1

77 papers

Pfam Domains

Glyco_hydro_47aa 137–586UCSCGlycosyl hydrolase family 47

Gene Aliases

HGNC Name

ER degradation enhancing alpha-mannosidase like protein 1

HGNC Alias Symbol

KIAA0212

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014674.3
p.V103M
c.307G>A
Surrounding Variants
1 paper
NM_014674.3
p.L104P
c.311T>C
1 paper
NM_014674.3
p.G101S
c.301G>A
1 paper
NM_014674.3
p.A98T
c.292G>A
1 paper
NM_014674.3
p.R109H
c.326G>A
1 paper
NM_014674.3
p.C95S
c.284G>C
1 paper
NM_014674.3
p.C95S
c.283T>A
1 paper
NM_014674.3
p.E113K
c.337G>A
1 paper
NM_014674.3
p.G91R
c.271G>A
1 paper
NM_014674.3
p.R117C
c.349C>T
1 paper
NM_014674.3
p.R117H
c.350G>A
1 paper
NM_014674.3
p.P87L
c.260C>T
1 paper
NM_014674.3
p.A86V
c.257C>T
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