Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.R264H

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.R264H
c.791G>A
Surrounding Variants
1 paper
NM_000789.4
p.R264P
c.791G>C
1 paper
NM_000789.4
p.R264G
c.790C>G
5 papers
NM_000789.4
p.R264C
c.790C>T
1 paper
NM_000789.4
p.R265G
c.793C>G
8 papers
NM_000789.4
p.R265*
c.793C>T
2 papers
NM_000789.4
p.R265Q
c.794G>A
5 papers
NM_000789.4
p.H263Y
c.787C>T
1 paper
NM_000789.4
p.Y266N
c.796T>A
1 paper
NM_000789.4
p.Y266H
c.796T>C
2 papers
NM_000789.4
p.Y266S
c.797A>C
4 papers
NM_000789.4
p.Y266C
c.797A>G
1 paper
NM_000789.4
p.L262R
c.785T>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."