Varaico: Literature-Extracted Genetic Variants

Gene:EDEM1
Variant:p.F248L

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.F248L
c.742T>C
Surrounding Variants
1 paper
NM_014674.3
p.Q246H
c.738G>C
1 paper
NM_014674.3
p.Q246H
c.738G>T
1 paper
NM_014674.3
p.M251V
c.751A>G
1 paper
NM_014674.3
p.K254K
c.762G>A
1 paper
NM_014674.3
p.K254N
c.762G>C
1 paper
NM_014674.3
p.E259*
c.775G>T
1 paper
NM_014674.3
p.L267L
c.799C>T
1 paper
NM_014674.3
p.A274T
c.820G>A
1 paper
NM_014674.3
p.R286Q
c.857G>A
1 paper
NM_014674.3
p.V287M
c.859G>A
1 paper
NM_014674.3
p.N288I
c.863A>T
1 paper
NM_014674.3
p.P294L
c.881C>T
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