Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.H394R

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
4 papers
NM_000789.4
p.H394R
c.1181A>G
Surrounding Variants
1 paper
NM_000789.4
p.H394_I395insFs
c.1182_1183insT
3 papers
NM_000789.4
p.G393D
c.1178G>A
1 paper
NM_000789.4
p.G393A
c.1178G>C
3 papers
NM_000789.4
p.I395M
c.1185A>G
1 paper
NM_000789.4
p.Q396K
c.1186C>A
5 papers
NM_000789.4
p.Q396*
c.1186C>T
3 papers
NM_000789.4
p.M392T
c.1175T>C
1 paper
NM_000789.4
p.M392V
c.1174A>G
1 paper
NM_000789.4
p.Q396_Y397insFs
c.1188_1189insT
1 paper
NM_000789.4
p.Y397H
c.1189T>C
1 paper
NM_000789.4
p.Y397Y
c.1191C>T
1 paper
NM_000789.4
p.E391K
c.1171G>A
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