Varaico: Literature-Extracted Genetic Variants

Gene:EDEM2
Variant:p.T519S

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.T519S
c.1556C>G
Surrounding Variants
1 paper
NM_018217.3
p.T519S
c.1555A>T
1 paper
NM_018217.3
p.S522L
c.1565C>T
1 paper
NM_018217.3
p.E526K
c.1576G>A
1 paper
NM_018217.3
p.A477T
c.1429G>A
1 paper
NM_018217.3
p.P460H
c.1379C>A
3 papers
NM_018217.3
p.A456T
c.1366G>A
1 paper
NM_018217.3
p.L440Q
c.1319T>A
1 paper
NM_018217.3
p.Y436*
c.1308C>G
1 paper
NM_018217.3
p.Y436*
c.1308C>A
1 paper
NM_018217.3
p.R424H
c.1271G>A
1 paper
NM_018217.3
p.L389R
c.1166T>G
1 paper
NM_018217.3
p.Y379N
c.1135T>A
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