Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.Q711H

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.Q711H
c.2133G>C
Surrounding Variants
3 papers
NM_000789.4
p.Q711H
c.2133G>T
1 paper
NM_000789.4
p.N710T
c.2129A>C
4 papers
NM_000789.4
p.N710S
c.2129A>G
1 paper
NM_000789.4
p.Q713*
c.2137C>T
2 papers
NM_000789.4
p.N710D
c.2128A>G
1 paper
NM_000789.4
p.N710Y
c.2128A>T
2 papers
NM_000789.4
p.N714insFs
c.2141dupA
1 paper
NM_000789.4
p.N710_Q711delFs
c.2129_2132del4
2 papers
NM_000789.4
p.N714fs
c.2140_2141fs
3 papers
NM_000789.4
p.N714K
c.2142C>A
3 papers
NM_000789.4
p.N714K
c.2142C>G
6 papers
NM_000789.4
p.T715P
c.2143A>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."