Varaico: Literature-Extracted Genetic Variants

Gene:DERL2
Variant:p.Q192L

DERL2

18 papers

RefSeq Summary

Proteins that are unfolded or misfolded in the endoplasmic reticulum (ER) must be refolded or degraded to maintain the homeostasis of the ER. DERL2 is involved in the degradation of misfolded glycopro...

Pfam Domains

DER1aa 13–73UCSCDer1-like family

Gene Aliases

HGNC Name

derlin 2

HGNC Alias Symbols

F-LAN-1; FLANa; F-LANa; CGI-101; derlin-2

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_016041.5
p.Q192L
c.575A>T
Surrounding Variants
1 paper
NM_016041.5
p.S168L
c.503C>T
1 paper
NM_016041.5
p.F161del1
c.481_482delAAA
1 paper
NM_016041.5
p.F149del1
c.445_446delGAA
2 papers
NM_001304777.2
p.V97I
c.289G>A
NM_016041.5
p.V98I
c.292G>A
1 paper
NM_016041.5
p.F90V
c.268T>G
1 paper
NM_016041.5
p.R80C
c.238C>T
1 paper
NM_016041.5
p.L72_F73delFs
c.216_217delAT
1 paper
NM_016041.5
p.L72fs
c.214_215fs
1 paper
NM_016041.5
p.T59A
c.175A>G
1 paper
NM_016041.5
p.P216_N217del2
c.646_650del6
1 paper
NM_016041.5
p.R225W
c.673C>T
1 paper
NM_016041.5
p.S17T
c.50G>C
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