Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.A287T

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.A287T
c.859G>A
Surrounding Variants
2 papers
NM_000789.4
p.A287S
c.859G>T
5 papers
NM_000789.4
p.A287V
c.860C>T
1 paper
NM_000789.4
p.W286*
c.857G>A
3 papers
NM_000789.4
p.W286G
c.856T>G
1 paper
NM_000789.4
p.Q288P
c.863A>C
6 papers
NM_000789.4
p.Q288R
c.863A>G
3 papers
NM_000789.4
p.M285I
c.855G>A
3 papers
NM_000789.4
p.M285I
c.855G>C
3 papers
NM_000789.4
p.M285I
c.855G>T
3 papers
NM_000789.4
p.M285T
c.854T>C
3 papers
NM_000789.4
p.M285V
c.853A>G
4 papers
NM_000789.4
p.M285fs
c.853_854fs
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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."