Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.I693V

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.I693V
c.2077A>G
Surrounding Variants
2 papers
NM_000789.4
p.Q692K
c.2074C>A
4 papers
NM_000789.4
p.Q692*
c.2074C>T
4 papers
NM_000789.4
p.A694T
c.2080G>A
1 paper
NM_000789.4
p.A694S
c.2080G>T
2 papers
NM_000789.4
p.A694V
c.2081C>T
1 paper
NM_000789.4
p.M691delFs
c.2073delG
3 papers
NM_000789.4
p.M691V
c.2071A>G
2 papers
NM_000789.4
p.N695S
c.2084A>G
4 papers
NM_000789.4
p.H696N
c.2086C>A
3 papers
NM_000789.4
p.H696L
c.2087A>T
2 papers
NM_000789.4
p.K689R
c.2066A>G
4 papers
NM_000789.4
p.T697N
c.2090C>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."