Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.A730S

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
3 papers
NM_000789.4
p.A730S
c.2188G>T
Surrounding Variants
4 papers
NM_000789.4
p.A730E
c.2189C>A
4 papers
NM_000789.4
p.R729Q
c.2186G>A
3 papers
NM_000789.4
p.R729W
c.2185C>T
2 papers
NM_000789.4
p.E728E
c.2184A>G
1 paper
NM_000789.4
p.E728D
c.2184A>T
1 paper
NM_000789.4
p.A731G
c.2192C>G
3 papers
NM_000789.4
p.A731V
c.2192C>T
3 papers
NM_000789.4
p.E728G
c.2183A>G
1 paper
NM_000789.4
p.A731A
c.2193A>G
1 paper
NM_000789.4
p.L727Q
c.2180T>A
1 paper
NM_000789.4
p.L727P
c.2180T>C
3 papers
NM_000789.4
p.L727R
c.2180T>G
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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."