Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.Q725*

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.Q725*
c.2173C>T
Surrounding Variants
4 papers
NM_000789.4
p.Q725E
c.2173C>G
3 papers
NM_000789.4
p.Q725H
c.2175G>C
3 papers
NM_000789.4
p.Q725H
c.2175G>T
1 paper
NM_000789.4
p.D726N
c.2176G>A
1 paper
NM_000789.4
p.V724L
c.2170G>C
1 paper
NM_000789.4
p.D726H
c.2176G>C
3 papers
NM_000789.4
p.D726V
c.2177A>T
1 paper
NM_000789.4
p.L727I
c.2179C>A
1 paper
NM_000789.4
p.L727L
c.2179C>T
4 papers
NM_000789.4
p.K722N
c.2166G>C
4 papers
NM_000789.4
p.K722N
c.2166G>T
1 paper
NM_000789.4
p.L727Q
c.2180T>A
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