Varaico: Literature-Extracted Genetic Variants

Gene:DERL1
Variant:p.G180V

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
Selected Variant
2 papers
NM_024295.6
p.G180V
c.539G>T
Surrounding Variants
1 paper
NM_024295.6
p.H181R
c.542A>G
1 paper
NM_024295.6
p.G176V
c.527G>T
1 paper
NM_024295.6
p.M187L
c.559A>T
1 paper
NM_024295.6
p.V170A
c.509T>C
1 paper
NM_024295.6
p.Y190F
c.569A>T
1 paper
NM_024295.6
p.S169Splc
c.507-2A>T
1 paper
NM_024295.6
p.M192I
c.576G>A
1 paper
NM_024295.6
p.D193N
c.577G>A
1 paper
NM_024295.6
p.L206W
c.617T>G
1 paper
NM_024295.6
p.L206Splc
c.617+50A>G
1 paper
NM_024295.6
p.I165T
c.494T>C
1 paper
NM_024295.6
p.Y154C
c.461A>G
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