Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.L134P

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
2 papers
NM_000789.4
p.L134P
c.401T>C
Surrounding Variants
1 paper
NM_000789.4
p.L134Q
c.401T>A
3 papers
NM_000789.4
p.L134L
c.402G>A
3 papers
NM_000789.4
p.A135T
c.403G>A
1 paper
NM_000789.4
p.A135D
c.404C>A
1 paper
NM_000789.4
p.P133S
c.397C>T
4 papers
NM_000789.4
p.K136E
c.406A>G
3 papers
NM_000789.4
p.K136T
c.407A>C
3 papers
NM_000789.4
p.R137G
c.409C>G
4 papers
NM_000789.4
p.R137W
c.409C>T
3 papers
NM_000789.4
p.N131S
c.392A>G
3 papers
NM_000789.4
p.R137Q
c.410G>A
3 papers
NM_000789.4
p.N131H
c.391A>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."