Varaico: Literature-Extracted Genetic Variants

Gene:EDEM1
Variant:p.W3C

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.W3C
c.9G>T
Surrounding Variants
1 paper
NM_014674.3
p.W3C
c.9G>C
1 paper
NM_014674.3
p.R14L
c.41G>T
1 paper
NM_014674.3
p.V20L
c.58G>C
1 paper
NM_014674.3
p.V20L
c.58G>T
1 paper
NM_014674.3
p.V20G
c.59T>G
1 paper
NM_014674.3
p.W22C
c.66G>C
1 paper
NM_014674.3
p.W22C
c.66G>T
1 paper
NM_014674.3
p.P29L
c.86C>T
1 paper
NM_014674.3
p.M31ins13
c.92_93ins39
1 paper
NM_014674.3
p.Y34H
c.100T>C
1 paper
NM_014674.3
p.R36C
c.106C>T
1 paper
NM_014674.3
p.R45C
c.133C>T
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