Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.E460K

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.E460K
c.1378G>A
Surrounding Variants
1 paper
NM_000789.4
p.I462insFs
c.1384dupA
1 paper
NM_000789.4
p.I462delFs
c.1384delA
1 paper
NM_000789.4
p.L459L
c.1377G>A
3 papers
NM_000789.4
p.A458V
c.1373C>T
1 paper
NM_000789.4
p.I462V
c.1384A>G
3 papers
NM_000789.4
p.I462F
c.1384A>T
5 papers
NM_000789.4
p.I462fs
c.1384_1385fs
1 paper
NM_000789.4
p.A458T
c.1372G>A
3 papers
NM_000789.4
p.I462N
c.1385T>A
2 papers
NM_000789.4
p.M457R
c.1370T>G
1 paper
NM_000789.4
p.M457fs
c.1369_1370fs
1 paper
NM_000789.4
p.K456N
c.1368A>C
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