Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.E58A

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.E58A
c.173A>C
Surrounding Variants
1 paper
NM_000789.4
p.E58Q
c.172G>C
4 papers
NM_000789.4
p.Q59*
c.175C>T
5 papers
NM_000789.4
p.A57T
c.169G>A
1 paper
NM_000789.4
p.V60L
c.178G>C
3 papers
NM_000789.4
p.S56N
c.167G>A
1 paper
NM_000789.4
p.S56_A57insFs
c.168_169insCC
1 paper
NM_000789.4
p.V60E
c.179T>A
1 paper
NM_000789.4
p.V60A
c.179T>C
3 papers
NM_000789.4
p.S56C
c.166A>T
3 papers
NM_000789.4
p.L61L
c.181C>T
5 papers
NM_000789.4
p.S55F
c.164C>T
3 papers
NM_000789.4
p.L61Q
c.182T>A
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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."