Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.Q703H

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.Q703H
c.2109G>T
Surrounding Variants
3 papers
NM_000789.4
p.Q703H
c.2109G>C
1 paper
NM_000789.4
p.Q703K
c.2107C>A
3 papers
NM_000789.4
p.A704V
c.2111C>T
3 papers
NM_000789.4
p.R705G
c.2113A>G
1 paper
NM_000789.4
p.R705W
c.2113A>T
3 papers
NM_000789.4
p.T702N
c.2105C>A
5 papers
NM_000789.4
p.R705K
c.2114G>A
3 papers
NM_000789.4
p.K706R
c.2117A>G
5 papers
NM_000789.4
p.G701S
c.2101G>A
4 papers
NM_000789.4
p.Y700*
c.2100C>A
4 papers
NM_000789.4
p.Y700*
c.2100C>G
1 paper
NM_000789.4
p.K706K
c.2118G>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."