Varaico: Literature-Extracted Genetic Variants

Gene:DERL1

DERL1

72 papers

RefSeq Summary

The protein encoded by this gene is a member of the derlin family. Members of this family participate in the ER-associated degradation response and retrotranslocate misfolded or unfolded proteins from...

Pfam Domains

DER1aa 1–104UCSCDer1-like family
DER1aa 11–204UCSCDer1-like family

Gene Aliases

HGNC Name

derlin 1

HGNC Alias Symbols

MGC3067; PRO2577; FLJ13784; DER1; DER-1; derlin-1

Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
3 papers
NM_024295.6
p.G93A
c.278G>C
2 papers
NM_024295.6
p.V110L
c.328G>T
2 papers
NM_024295.6
p.V110L
c.328G>C
2 papers
NM_024295.6
p.G180V
c.539G>T
1 paper
NM_024295.6
p.M1K
c.2T>A
1 paper
NM_024295.6
p.A13V
c.38C>T
1 paper
NM_024295.6
p.R16C
c.46C>T
1 paper
NM_024295.6
p.V25M
c.73G>A
1 paper
NM_024295.6
p.G29V
c.86G>T
1 paper
NM_024295.6
p.L31F
c.91C>T
1 paper
NM_024295.6
p.L31P
c.92T>C
1 paper
NM_024295.6
p.G32R
c.94G>C
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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."