Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.A27A

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.A27A
c.81C>G
Surrounding Variants
1 paper
NM_000789.4
p.A27A
c.81C>A
4 papers
NM_000789.4
p.A27A
c.81C>T
3 papers
NM_000789.4
p.A27G
c.80C>G
5 papers
NM_000789.4
p.A27V
c.80C>T
1 paper
NM_000789.4
p.L28L
c.82C>T
5 papers
NM_000789.4
p.A27T
c.79G>A
1 paper
NM_000789.4
p.A27P
c.79G>C
11 papers
NM_000789.4
p.A27S
c.79G>T
1 paper
NM_000789.4
p.L28Q
c.83T>A
1 paper
NM_000789.4
p.L28insFs
c.84dupG
1 paper
NM_000789.4
p.P26H
c.77C>A
1 paper
NM_000789.4
p.P26R
c.77C>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."