Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.L281V

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.L281V
c.841C>G
Surrounding Variants
2 papers
NM_000789.4
p.L281Q
c.842T>A
1 paper
NM_000789.4
p.L281P
c.842T>C
1 paper
NM_000789.4
p.L281R
c.842T>G
3 papers
NM_000789.4
p.H280R
c.839A>G
1 paper
NM_000789.4
p.L282Q
c.845T>A
3 papers
NM_000789.4
p.L282P
c.845T>C
1 paper
NM_000789.4
p.L282R
c.845T>G
1 paper
NM_000789.4
p.A279D
c.836C>A
1 paper
NM_000789.4
p.G283*
c.847G>T
1 paper
NM_000789.4
p.G283Splc
c.847+1G>A
1 paper
NM_000789.4
p.G283V
c.848G>T
1 paper
NM_000789.4
p.P278_L281del0
c.834_842del9
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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."