Varaico: Literature-Extracted Genetic Variants

Gene:REN
Variant:p.L12P

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
3 papers
NM_000537.4
p.L12P
c.35T>C
Surrounding Variants
2 papers
NM_000537.4
p.L12L
c.34C>T
1 paper
NM_000537.4
p.L12V
c.34C>G
1 paper
NM_000537.4
p.L13R
c.38T>G
1 paper
NM_000537.4
p.L13P
c.38T>C
3 papers
NM_000537.4
p.L13Q
c.38T>A
1 paper
NM_000537.4
p.G11R
c.31G>C
1 paper
NM_000537.4
p.W10*
c.30G>A
1 paper
NM_000537.4
p.R9insFs
c.27dupC
10 papers
NM_000537.4
p.W10R
c.28T>C
10 papers
NM_000537.4
p.W10R
c.28T>A
1 paper
NM_000537.4
p.R9insFs
c.26_27insG
2 papers
NM_000537.4
p.R9C
c.25C>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."