Varaico: Literature-Extracted Genetic Variants

Gene:ACE

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
1–12 of 2619 variants
218 papers
NM_000789.4
p.H389P
c.1166A>C
59 papers
NM_000789.4
p.V298V
c.894G>T
44 papers
NM_000789.4
p.F490S
c.1469T>C
40 papers
NM_000789.4
p.A80A
c.240A>T
34 papers
NM_000789.4
p.A67V
c.200C>T
32 papers
NM_000789.4
p.Y453F
c.1358A>T
31 papers
NM_000789.4
p.T716I
c.2147C>T
24 papers
NM_000789.4
p.P26S
c.76C>T
22 papers
NM_000789.4
p.Y244C
c.731A>G
20 papers
NM_000789.4
p.R1279Q
c.3836G>A
16 papers
NM_000789.4
p.P170L
c.509C>T
15 papers
NM_000789.4
p.H433P
c.1298A>C
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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."