Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.D239E

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
3 papers
NM_000789.4
p.D239E
c.717T>A
Surrounding Variants
3 papers
NM_000789.4
p.D239E
c.717T>G
1 paper
NM_000789.4
p.L240V
c.718C>G
4 papers
NM_000789.4
p.D239N
c.715G>A
3 papers
NM_000789.4
p.D239Y
c.715G>T
4 papers
NM_000789.4
p.D239fs
c.715_716fs
1 paper
NM_000789.4
p.L240Q
c.719T>A
1 paper
NM_000789.4
p.D238E
c.714C>A
1 paper
NM_000789.4
p.D238D
c.714C>T
2 papers
NM_000789.4
p.D238V
c.713A>T
1 paper
NM_000789.4
p.E241K
c.721G>A
3 papers
NM_000789.4
p.E241Q
c.721G>C
1 paper
NM_000789.4
p.E241*
c.721G>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."