Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.Q314H

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.Q314H
c.942G>T
Surrounding Variants
1 paper
NM_000789.4
p.Q314H
c.942G>C
1 paper
NM_000789.4
p.Q314P
c.941A>C
1 paper
NM_000789.4
p.Q314R
c.941A>G
1 paper
NM_000789.4
p.Q314L
c.941A>T
1 paper
NM_000789.4
p.Q315_G316insC
c.943_947ins3
1 paper
NM_000789.4
p.Q315L
c.944A>T
1 paper
NM_000789.4
p.Q314K
c.940C>A
1 paper
NM_000789.4
p.L313P
c.938T>C
3 papers
NM_000789.4
p.M312T
c.935T>C
3 papers
NM_000789.4
p.M312V
c.934A>G
1 paper
NM_000789.4
p.Q315_G316Splc
c.945+6C>T
3 papers
NM_000789.4
p.T311S
c.932C>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."