Varaico: Literature-Extracted Genetic Variants

Gene:EDEM1
Variant:p.R135L

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.R135L
c.404G>T
Surrounding Variants
1 paper
NM_014674.3
p.A134T
c.400G>A
1 paper
NM_014674.3
p.L133M
c.397C>A
1 paper
NM_014674.3
p.A147delFs
c.439delG
1 paper
NM_014674.3
p.P124A
c.370C>G
1 paper
NM_014674.3
p.P123L
c.368C>T
1 paper
NM_014674.3
p.P123S
c.367C>T
1 paper
NM_014674.3
p.A121V
c.362C>T
1 paper
NM_014674.3
p.R117H
c.350G>A
1 paper
NM_014674.3
p.R117C
c.349C>T
1 paper
NM_014674.3
p.E154D
c.462G>C
1 paper
NM_014674.3
p.E154D
c.462G>T
1 paper
NM_014674.3
p.E113K
c.337G>A
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."