Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.T483I

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
6 papers
NM_000789.4
p.T483I
c.1448C>T
Surrounding Variants
5 papers
NM_000789.4
p.P485insFs
c.1454dupC
4 papers
NM_000789.4
p.P485delFs
c.1454delC
1 paper
NM_000789.4
p.P484H
c.1451C>A
3 papers
NM_000789.4
p.P484R
c.1451C>G
1 paper
NM_000789.4
p.P484L
c.1451C>T
5 papers
NM_000789.4
p.R482H
c.1445G>A
1 paper
NM_000789.4
p.R482P
c.1445G>C
1 paper
NM_000789.4
p.R482L
c.1445G>T
7 papers
NM_000789.4
p.R482C
c.1444C>T
4 papers
NM_000789.4
p.P485A
c.1453C>G
6 papers
NM_000789.4
p.P485fs
c.1453_1454fs
1 paper
NM_000789.4
p.P485H
c.1454C>A
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