Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.R8Q

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.R8Q
c.23G>A
Surrounding Variants
5 papers
NM_000789.4
p.R8L
c.23G>T
6 papers
NM_000789.4
p.R8W
c.22C>T
1 paper
NM_000789.4
p.R8fs
c.22_23fs
1 paper
NM_000789.4
p.R7R
c.21C>T
4 papers
NM_000789.4
p.G9R
c.25G>A
5 papers
NM_000789.4
p.G9R
c.25G>C
4 papers
NM_000789.4
p.G9W
c.25G>T
5 papers
NM_000789.4
p.G9E
c.26G>A
1 paper
NM_000789.4
p.R7P
c.20G>C
4 papers
NM_000789.4
p.R7L
c.20G>T
1 paper
NM_000789.4
p.G9V
c.26G>T
4 papers
NM_000789.4
p.R7S
c.19C>A
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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."