Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.E432fs

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.E432fs
c.1294_1295fs
Surrounding Variants
3 papers
NM_000789.4
p.P431L
c.1292C>T
15 papers
NM_000789.4
p.H433P
c.1298A>C
3 papers
NM_000789.4
p.H433R
c.1298A>G
1 paper
NM_000789.4
p.T430I
c.1289C>T
1 paper
NM_000789.4
p.T430delFs
c.1290delT
1 paper
NM_000789.4
p.T430A
c.1288A>G
3 papers
NM_000789.4
p.L434V
c.1300C>G
3 papers
NM_000789.4
p.S429F
c.1286C>T
3 papers
NM_000789.4
p.H435L
c.1304A>T
3 papers
NM_000789.4
p.V428G
c.1283T>G
4 papers
NM_000789.4
p.K436*
c.1306A>T
3 papers
NM_000789.4
p.V428L
c.1282G>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."