Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.R487H

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
4 papers
NM_000789.4
p.R487H
c.1460G>A
Surrounding Variants
5 papers
NM_000789.4
p.R487C
c.1459C>T
3 papers
NM_000789.4
p.Y488S
c.1463A>C
3 papers
NM_000789.4
p.S486F
c.1457C>T
2 papers
NM_000789.4
p.S486T
c.1456T>A
3 papers
NM_000789.4
p.S486P
c.1456T>C
8 papers
NM_000789.4
p.S486fs
c.1456_1457fs
4 papers
NM_000789.4
p.N489D
c.1465A>G
1 paper
NM_000789.4
p.P485H
c.1454C>A
6 papers
NM_000789.4
p.P485R
c.1454C>G
1 paper
NM_000789.4
p.P485L
c.1454C>T
3 papers
NM_000789.4
p.N489K
c.1467C>A
4 papers
NM_000789.4
p.P485A
c.1453C>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."