Varaico: Literature-Extracted Genetic Variants

Gene:AUP1
Variant:p.L25delFs

AUP1

48 papers

RefSeq Summary

The protein encoded this gene is involved in several pathways including quality control of misfolded proteins in the endoplasmic reticulum and lipid droplet accumulation. Lipid droplets are organelles...

Pfam Domains

CUEaa 299–337UCSCCUE domain

Gene Aliases

HGNC Name

AUP1 lipid droplet regulating VLDL assembly factor

HGNC Previous Name

ancient ubiquitous protein 1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_181575.5
p.L25delFs
c.75delC
Surrounding Variants
1 paper
NM_181575.5
p.L25fs
c.73_74fs
1 paper
NM_181575.5
p.L30L
c.90C>G
1 paper
NM_181575.5
p.P19L
c.56C>T
1 paper
NM_181575.5
p.L18R
c.53T>G
3 papers
NM_181575.5
p.L43L
c.129C>G
2 papers
NM_181575.5
p.A55T
c.163G>A
1 paper
NM_181575.5
p.V60L
c.178G>C
2 papers
NM_181575.5
p.P9L
c.26C>T
1 paper
NM_181575.5
p.R90S
c.270G>T
1 paper
NM_181575.5
p.R90S
c.270G>C
1 paper
NM_181575.5
p.H102P
c.305A>C
1 paper
NM_181575.5
p.T113_P114Splc
c.339+83C>G
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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."