Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.L158L

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.L158L
c.474C>A
Surrounding Variants
3 papers
NM_000789.4
p.N160H
c.478A>C
3 papers
NM_000789.4
p.C157S
c.470G>C
7 papers
NM_000789.4
p.N160S
c.479A>G
3 papers
NM_000789.4
p.C157S
c.469T>A
1 paper
NM_000789.4
p.N160K
c.480C>G
2 papers
NM_000789.4
p.N160N
c.480C>T
1 paper
NM_000789.4
p.V156I
c.466G>A
3 papers
NM_000789.4
p.V156F
c.466G>T
4 papers
NM_000789.4
p.K155N
c.465G>C
4 papers
NM_000789.4
p.K155N
c.465G>T
1 paper
NM_000789.4
p.V156insFs
c.466_467insGG
1 paper
NM_000789.4
p.T162A
c.484A>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."