Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.G224E

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.G224E
c.671G>A
Surrounding Variants
1 paper
NM_000789.4
p.G224R
c.670G>A
1 paper
NM_000789.4
p.T223T
c.669G>C
3 papers
NM_000789.4
p.A225S
c.673G>T
4 papers
NM_000789.4
p.T223M
c.668C>T
1 paper
NM_000789.4
p.A225V
c.674C>T
1 paper
NM_000789.4
p.T223delFs
c.668delC
1 paper
NM_000789.4
p.A225_Y226Fs
c.675_676delinsGFs
3 papers
NM_000789.4
p.D222E
c.666C>A
3 papers
NM_000789.4
p.D222E
c.666C>G
1 paper
NM_000789.4
p.Y226N
c.676T>A
3 papers
NM_000789.4
p.Y226H
c.676T>C
3 papers
NM_000789.4
p.D222V
c.665A>T
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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."