Varaico: Literature-Extracted Genetic Variants

Gene:APOLD1
Variant:p.R49H

APOLD1

21 papers

RefSeq Summary

APOLD1 is an endothelial cell early response protein that may play a role in regulation of endothelial cell signaling and vascular function (Regard et al., 2004 [PubMed 15102925]).[supplied by OMIM, D...

Pfam Domains

ApoLaa 52–174UCSCApolipoprotein L

Gene Aliases

HGNC Name

apolipoprotein L domain containing 1

HGNC Alias Symbols

FLJ25138; DKFZP434F0318

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_030817.3
p.R49H
c.146G>A
Surrounding Variants
1 paper
NM_030817.3
p.R49C
c.145C>T
1 paper
NM_030817.3
p.R49delins
c.145_146delinsTA
1 paper
NM_030817.3
p.A58T
c.172G>A
1 paper
NM_030817.3
p.S60G
c.178A>G
2 papers
NM_030817.3
p.A64S
c.190G>T
1 paper
NM_030817.3
p.G33C
c.97G>T
1 paper
NM_030817.3
p.G22R
c.64G>C
1 paper
NM_030817.3
p.P78Q
c.233C>A
1 paper
NM_030817.3
p.P11P
c.33G>C
1 paper
NM_030817.3
p.P11L
c.32C>T
1 paper
NM_030817.3
p.A89insFs
c.266_267ins4
1 paper
NM_030817.3
p.A95S
c.283G>T
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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."