Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.G1294R

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
3 papers
NM_000789.4
p.G1294R
c.3880G>C
Surrounding Variants
3 papers
NM_000789.4
p.G1294R
c.3880G>A
3 papers
NM_000789.4
p.H1293Q
c.3879C>A
3 papers
NM_000789.4
p.H1293Q
c.3879C>G
3 papers
NM_000789.4
p.G1294E
c.3881G>A
4 papers
NM_000789.4
p.H1293Y
c.3877C>T
1 paper
NM_000789.4
p.P1295S
c.3883C>T
1 paper
NM_000789.4
p.P1295H
c.3884C>A
4 papers
NM_000789.4
p.P1295L
c.3884C>T
4 papers
NM_000789.4
p.Q1296*
c.3886C>T
2 papers
NM_000789.4
p.Q1296P
c.3887A>C
3 papers
NM_000789.4
p.Q1296R
c.3887A>G
3 papers
NM_000789.4
p.H1291P
c.3872A>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."