Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.Q116_L117del1

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.Q116_L117del1
c.347_349delAGC
Surrounding Variants
2 papers
NM_000789.4
p.P115Q
c.344C>A
4 papers
NM_000789.4
p.P115R
c.344C>G
5 papers
NM_000789.4
p.P115L
c.344C>T
4 papers
NM_000789.4
p.P115S
c.343C>T
1 paper
NM_000789.4
p.D114E
c.342C>A
1 paper
NM_000789.4
p.D114E
c.342C>G
2 papers
NM_000789.4
p.D114N
c.340G>A
3 papers
NM_000789.4
p.D114H
c.340G>C
1 paper
NM_000789.4
p.D114Y
c.340G>T
1 paper
NM_000789.4
p.L117L
c.349C>T
1 paper
NM_000789.4
p.T113K
c.338C>A
4 papers
NM_000789.4
p.T113M
c.338C>T
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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."