Varaico: Literature-Extracted Genetic Variants

Gene:REN
Variant:p.R148H

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
1 paper
NM_000537.4
p.R148H
c.443G>A
Surrounding Variants
2 papers
NM_000537.4
p.R148C
c.442C>T
1 paper
NM_000537.4
p.R148R
c.444C>T
1 paper
NM_000537.4
p.Y149N
c.445T>A
3 papers
NM_000537.4
p.Y149ins1
c.446_447insGAA
2 papers
NM_000537.4
p.Y149ins1
c.446_447insAAC
1 paper
NM_000537.4
p.T151A
c.451A>G
2 papers
NM_000537.4
p.L145F
c.433C>T
1 paper
NM_000537.4
p.L145V
c.433C>G
13 papers
NM_000537.4
p.G152E
c.455G>A
1 paper
NM_000537.4
p.E144*
c.430G>T
1 paper
NM_000537.4
p.E144Q
c.430G>C
1 paper
NM_000537.4
p.G142_T143delFs
c.426_429del4
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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."