Varaico: Literature-Extracted Genetic Variants

Gene:REN
Variant:p.L290S

REN

929 papers

RefSeq Summary

This gene encodes renin, an aspartic protease that is secreted by the kidneys. Renin is a part of the renin-angiotensin-aldosterone system involved in regulation of blood pressure, and electrolyte bal...

Pfam Domains

A1_Propeptideaa 33–51UCSCA1 Propeptide
Aspaa 85–405UCSCEukaryotic aspartyl protease

Gene Aliases

HGNC Name

renin

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
11 papers
NM_000537.4
p.L290S
c.869T>C
Surrounding Variants
1 paper
NM_000537.4
p.D292A
c.875A>C
1 paper
NM_000537.4
p.C287Y
c.860G>A
1 paper
NM_000537.4
p.T293I
c.878C>T
1 paper
NM_000537.4
p.G294A
c.881G>C
1 paper
NM_000537.4
p.G294D
c.881G>A
1 paper
NM_000537.4
p.G286D
c.857G>A
1 paper
NM_000537.4
p.G294G
c.882T>C
1 paper
NM_000537.4
p.G286fs
c.856_857fs
1 paper
NM_000537.4
p.D285A
c.854A>C
1 paper
NM_000537.4
p.G277_C283insFs
c.831_849dup19
1 paper
NM_000537.4
p.Y297*
c.891C>G
1 paper
NM_000537.4
p.Y297*
c.891C>A
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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."