Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.F490I

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
2 papers
NM_000789.4
p.F490I
c.1468T>A
Surrounding Variants
5 papers
NM_000789.4
p.F490L
c.1468T>C
1 paper
NM_000789.4
p.F490V
c.1468T>G
3 papers
NM_000789.4
p.N489K
c.1467C>A
3 papers
NM_000789.4
p.N489K
c.1467C>G
3 papers
NM_000789.4
p.F490Y
c.1469T>A
44 papers
NM_000789.4
p.F490S
c.1469T>C
5 papers
NM_000789.4
p.F490L
c.1470C>A
5 papers
NM_000789.4
p.F490L
c.1470C>G
4 papers
NM_000789.4
p.N489D
c.1465A>G
3 papers
NM_000789.4
p.D491N
c.1471G>A
3 papers
NM_000789.4
p.D491fs
c.1471_1472fs
3 papers
NM_000789.4
p.D491fs
c.1471_1472fs
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