Varaico: Literature-Extracted Genetic Variants

Gene:EDEM1
Variant:p.C457S

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.C457S
c.1370G>C
Surrounding Variants
1 paper
NM_014674.3
p.C457S
c.1369T>A
1 paper
NM_014674.3
p.I456F
c.1366A>T
1 paper
NM_014674.3
p.R468*
c.1402C>T
1 paper
NM_014674.3
p.P483L
c.1448C>T
2 papers
NM_014674.3
p.E493Q
c.1477G>C
1 paper
NM_014674.3
p.F442fs
c.1324_1325fs
1 paper
NM_014674.3
p.W434*
c.1302G>A
1 paper
NM_014674.3
p.W434*
c.1301G>A
1 paper
NM_014674.3
p.L430R
c.1289T>G
1 paper
NM_014674.3
p.G428E
c.1283G>A
1 paper
NM_014674.3
p.G428W
c.1282G>T
1 paper
NM_014674.3
p.M425T
c.1274T>C
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