Varaico: Literature-Extracted Genetic Variants

Gene:REN
Variant:p.G93_Q97delins

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.G93_Q97delins
c.278_289delinsCCGCCTCCT
Surrounding Variants
1 paper
NM_000537.4
p.Q97K
c.289C>A
1 paper
NM_000537.4
p.Q97delFs
c.289delG
1 paper
NM_000537.4
p.P96H
c.287C>A
2 papers
NM_000537.4
p.P96S
c.286C>T
1 paper
NM_000537.4
p.T98P
c.292A>C
2 papers
NM_000537.4
p.T98T
c.294C>A
1 paper
NM_000537.4
p.F99I
c.295T>A
4 papers
NM_000537.4
p.K100fs
c.298_299fs
2 papers
NM_000537.4
p.G93V
c.278G>T
4 papers
NM_000537.4
p.K100delFs
c.299_300delTT
1 paper
NM_000537.4
p.V101V
c.303C>T
1 paper
NM_000537.4
p.G91fs
c.271_272fs
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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."