Varaico: Literature-Extracted Genetic Variants

Gene:EDEM1
Variant:p.R45C

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.R45C
c.133C>T
Surrounding Variants
1 paper
NM_014674.3
p.L46R
c.137T>G
1 paper
NM_014674.3
p.P49P
c.147C>G
1 paper
NM_014674.3
p.G51R
c.151G>C
1 paper
NM_014674.3
p.R36C
c.106C>T
1 paper
NM_014674.3
p.S54T
c.160T>A
1 paper
NM_014674.3
p.Y34H
c.100T>C
1 paper
NM_014674.3
p.T56I
c.167C>T
1 paper
NM_014674.3
p.M31ins13
c.92_93ins39
1 paper
NM_014674.3
p.V60M
c.178G>A
1 paper
NM_014674.3
p.P29L
c.86C>T
1 paper
NM_014674.3
p.P63fs
c.187_188fs
1 paper
NM_014674.3
p.G65R
c.193G>A
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