Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.Q110L

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.Q110L
c.329A>T
Surrounding Variants
2 papers
NM_000789.4
p.Q110E
c.328C>G
1 paper
NM_000789.4
p.Q110H
c.330G>T
3 papers
NM_000789.4
p.N111I
c.332A>T
1 paper
NM_000789.4
p.I108N
c.323T>A
1 paper
NM_000789.4
p.I108insFs
c.323_324ins10
1 paper
NM_000789.4
p.T113P
c.337A>C
4 papers
NM_000789.4
p.T113fs
c.337_338fs
1 paper
NM_000789.4
p.T113K
c.338C>A
3 papers
NM_000789.4
p.P107R
c.320C>G
4 papers
NM_000789.4
p.T113M
c.338C>T
2 papers
NM_000789.4
p.D114N
c.340G>A
3 papers
NM_000789.4
p.D114H
c.340G>C
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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."