Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.A96V

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
4 papers
NM_000789.4
p.A96V
c.287C>T
Surrounding Variants
4 papers
NM_000789.4
p.A96P
c.286G>C
3 papers
NM_000789.4
p.W97S
c.290G>C
1 paper
NM_000789.4
p.E95K
c.283G>A
3 papers
NM_000789.4
p.W97C
c.291G>C
4 papers
NM_000789.4
p.W97C
c.291G>T
1 paper
NM_000789.4
p.A94A
c.282G>C
4 papers
NM_000789.4
p.A94V
c.281C>T
3 papers
NM_000789.4
p.Q99E
c.295C>G
1 paper
NM_000789.4
p.Q99*
c.295C>T
3 papers
NM_000789.4
p.Q99L
c.296A>T
3 papers
NM_000789.4
p.F93V
c.277T>G
3 papers
NM_000789.4
p.K100E
c.298A>G
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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."