Varaico: Literature-Extracted Genetic Variants

Gene:EDEM1
Variant:p.S308F

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.S308F
c.923C>T
Surrounding Variants
2 papers
NM_014674.3
p.G307S
c.919G>A
1 paper
NM_014674.3
p.R318Q
c.953G>A
1 paper
NM_014674.3
p.T297I
c.890C>T
4 papers
NM_014674.3
p.D296N
c.886G>A
1 paper
NM_014674.3
p.P294L
c.881C>T
1 paper
NM_014674.3
p.N288I
c.863A>T
1 paper
NM_014674.3
p.V287M
c.859G>A
1 paper
NM_014674.3
p.R340W
c.1018C>T
1 paper
NM_014674.3
p.R340Q
c.1019G>A
1 paper
NM_014674.3
p.R286Q
c.857G>A
1 paper
NM_014674.3
p.A274T
c.820G>A
1 paper
NM_014674.3
p.L267L
c.799C>T
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