Varaico: Literature-Extracted Genetic Variants

Gene:EDEM2
Variant:p.I253V

EDEM2

46 papers

RefSeq Summary

In the endoplasmic reticulum (ER), misfolded proteins are retrotranslocated to the cytosol and degraded by the proteasome in a process known as ER-associated degradation (ERAD). EDEM2 belongs to a fam...

Pfam Domains

Glyco_hydro_47aa 42–481UCSCGlycosyl hydrolase family 47

Gene Aliases

HGNC Name

ER degradation enhancing alpha-mannosidase like protein 2

HGNC Previous Symbols

C20orf49; C20orf31

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_018217.3
p.I253V
c.757A>G
Surrounding Variants
1 paper
NM_018217.3
p.D258N
c.772G>A
1 paper
NM_018217.3
p.L264insFs
c.790_791insT
1 paper
NM_018217.3
p.R224C
c.670C>T
1 paper
NM_018217.3
p.A218delFs
c.652delC
1 paper
NM_018217.3
p.I195T
c.584T>C
1 paper
NM_001145025.2
p.I158N
c.473T>A
1 paper
NM_018217.3
p.P184L
c.551C>T
1 paper
NM_018217.3
p.V182M
c.544G>A
1 paper
NM_018217.3
p.E282Splc
c.845-191G>A
1 paper
NM_018217.3
p.R292H
c.875G>A
1 paper
NM_018217.3
p.T306I
c.917C>T
1 paper
NM_018217.3
p.M309insFs
c.926_927insT
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