Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.W230*

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
5 papers
NM_000789.4
p.W230*
c.689G>A
Surrounding Variants
4 papers
NM_000789.4
p.W230*
c.690G>A
3 papers
NM_000789.4
p.W230C
c.690G>C
4 papers
NM_000789.4
p.W230C
c.690G>T
1 paper
NM_000789.4
p.Y231H
c.691T>C
3 papers
NM_000789.4
p.Y231C
c.692A>G
3 papers
NM_000789.4
p.S229F
c.686C>T
1 paper
NM_000789.4
p.N232Y
c.694A>T
3 papers
NM_000789.4
p.N232T
c.695A>C
5 papers
NM_000789.4
p.R228H
c.683G>A
1 paper
NM_000789.4
p.N232K
c.696C>A
1 paper
NM_000789.4
p.N232K
c.696C>G
6 papers
NM_000789.4
p.R228C
c.682C>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."