Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.T387A

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
5 papers
NM_000789.4
p.T387A
c.1159A>G
Surrounding Variants
1 paper
NM_000789.4
p.T387T
c.1161A>C
1 paper
NM_000789.4
p.V388M
c.1162G>A
1 paper
NM_000789.4
p.L385P
c.1154T>C
1 paper
NM_000789.4
p.H389D
c.1165C>G
218 papers
NM_000789.4
p.H389P
c.1166A>C
1 paper
NM_000789.4
p.Q384Q
c.1152G>A
1 paper
NM_000789.4
p.L385_L399delFs
c.1153_1196del44
3 papers
NM_000789.4
p.H389Q
c.1167C>A
3 papers
NM_000789.4
p.H389Q
c.1167C>G
1 paper
NM_000789.4
p.H389H
c.1167C>T
4 papers
NM_000789.4
p.D383G
c.1148A>G
1 paper
NM_000789.4
p.E391K
c.1171G>A
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