Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.E84A

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.E84A
c.251A>C
Surrounding Variants
3 papers
NM_000789.4
p.E84V
c.251A>T
2 papers
NM_000789.4
p.E84K
c.250G>A
4 papers
NM_000789.4
p.E85K
c.253G>A
1 paper
NM_000789.4
p.E85V
c.254A>T
3 papers
NM_000789.4
p.A87S
c.259G>T
1 paper
NM_000789.4
p.A87D
c.260C>A
1 paper
NM_000789.4
p.Q83_E84Splc
c.250-8C>T
1 paper
NM_000789.4
p.A87V
c.260C>T
1 paper
NM_000789.4
p.A87A
c.261C>G
3 papers
NM_000789.4
p.L88V
c.262C>G
2 papers
NM_000789.4
p.L88L
c.262C>T
1 paper
NM_000789.4
p.L89I
c.265C>A
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."