Varaico: Literature-Extracted Genetic Variants

Gene:EDEM2
Variant:p.T306I

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.T306I
c.917C>T
Surrounding Variants
1 paper
NM_018217.3
p.M309insFs
c.926_927insT
1 paper
NM_018217.3
p.M309fs
c.925_926fs
1 paper
NM_018217.3
p.R292H
c.875G>A
1 paper
NM_018217.3
p.E282Splc
c.845-191G>A
1 paper
NM_018217.3
p.I326V
c.976A>G
1 paper
NM_018217.3
p.R334W
c.1000A>T
1 paper
NM_018217.3
p.T341A
c.1021A>G
1 paper
NM_018217.3
p.V361M
c.1081G>A
1 paper
NM_018217.3
p.L264insFs
c.790_791insT
1 paper
NM_018217.3
p.D258N
c.772G>A
1 paper
NM_018217.3
p.I253V
c.757A>G
1 paper
NM_018217.3
p.M378V
c.1132A>G
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