Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.L439V

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.L439V
c.1315C>G
Surrounding Variants
3 papers
NM_000789.4
p.G438D
c.1313G>A
1 paper
NM_000789.4
p.L440M
c.1318C>A
4 papers
NM_000789.4
p.L440V
c.1318C>G
3 papers
NM_000789.4
p.L440_D441delFs
c.1319_1322del4
3 papers
NM_000789.4
p.G438S
c.1312G>A
3 papers
NM_000789.4
p.L440Q
c.1319T>A
1 paper
NM_000789.4
p.L440P
c.1319T>C
3 papers
NM_000789.4
p.D441N
c.1321G>A
4 papers
NM_000789.4
p.D441fs
c.1321_1322fs
1 paper
NM_000789.4
p.D441_R442ins5
c.1321_1325ins15
2 papers
NM_000789.4
p.D441delFs
c.1323delC
3 papers
NM_000789.4
p.K436R
c.1307A>G
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