Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.N292I

ACE

3,179 papers

RefSeq Summary

This gene encodes an enzyme involved in blood pressure regulation and electrolyte balance. It catalyzes the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensi...

Pfam Domains

Peptidase_M2aa 40–623UCSCAngiotensin-converting enzyme
Peptidase_M2aa 643–1221UCSCAngiotensin-converting enzyme

Gene Aliases

HGNC Name

angiotensin I converting enzyme

HGNC Previous Symbol

DCP1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_000789.4
p.N292I
c.875A>T
Surrounding Variants
2 papers
NM_000789.4
p.N292Y
c.874A>T
3 papers
NM_000789.4
p.E291A
c.872A>C
1 paper
NM_000789.4
p.E291G
c.872A>G
1 paper
NM_000789.4
p.I293N
c.878T>A
4 papers
NM_000789.4
p.E291K
c.871G>A
2 papers
NM_000789.4
p.W290*
c.870G>A
1 paper
NM_000789.4
p.W290*
c.869G>A
3 papers
NM_000789.4
p.W290S
c.869G>C
2 papers
NM_000789.4
p.S289R
c.867C>A
4 papers
NM_000789.4
p.D295N
c.883G>A
1 paper
NM_000789.4
p.D295A
c.884A>C
5 papers
NM_000789.4
p.S289N
c.866G>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."