Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.A3G

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
2 papers
NM_000789.4
p.A3G
c.8C>G
Surrounding Variants
1 paper
NM_000789.4
p.A3V
c.8C>T
1 paper
NM_000789.4
p.A3A
c.9C>G
1 paper
NM_000789.4
p.A3insFs
c.7_8insA
9 papers
NM_000789.4
p.G2G
c.6G>A
2 papers
NM_000789.4
p.A4T
c.10G>A
3 papers
NM_000789.4
p.A4S
c.10G>T
1 paper
NM_000789.4
p.A4_G11delFs
c.12_31del20
6 papers
NM_000789.4
p.G2E
c.5G>A
6 papers
NM_000789.4
p.G2V
c.5G>T
1 paper
NM_000789.4
p.A4A
c.12C>T
5 papers
NM_000789.4
p.G2R
c.4G>A
4 papers
NM_000789.4
p.G2R
c.4G>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."