Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.G128D

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.G128D
c.383G>A
Surrounding Variants
3 papers
NM_000789.4
p.G128A
c.383G>C
2 papers
NM_000789.4
p.S129T
c.385T>A
1 paper
NM_000789.4
p.S129A
c.385T>G
1 paper
NM_000789.4
p.L127M
c.379C>A
2 papers
NM_000789.4
p.L127insFs
c.379_380ins4
1 paper
NM_000789.4
p.L127V
c.379C>G
2 papers
NM_000789.4
p.A130V
c.389C>T
NM_001382700.1
p.P52S
c.154C>T
3 papers
NM_000789.4
p.N131H
c.391A>C
3 papers
NM_000789.4
p.N131S
c.392A>G
3 papers
NM_000789.4
p.R125P
c.374G>C
3 papers
NM_000789.4
p.R125C
c.373C>T
3 papers
NM_000789.4
p.V124A
c.371T>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."