Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.I721delFs

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.I721delFs
c.2162_2163delTA
Surrounding Variants
2 papers
NM_000789.4
p.I721V
c.2161A>G
1 paper
NM_000789.4
p.I720insFs
c.2159_2160insA
5 papers
NM_000789.4
p.I720V
c.2158A>G
4 papers
NM_000789.4
p.I721M
c.2163A>G
8 papers
NM_000789.4
p.R719Q
c.2156G>A
1 paper
NM_000789.4
p.K722T
c.2165A>C
15 papers
NM_000789.4
p.R719W
c.2155C>T
4 papers
NM_000789.4
p.K722N
c.2166G>C
4 papers
NM_000789.4
p.K722N
c.2166G>T
3 papers
NM_000789.4
p.K718R
c.2153A>G
3 papers
NM_000789.4
p.I717M
c.2151C>G
1 paper
NM_000789.4
p.V724L
c.2170G>C
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