Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.E736K

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.E736K
c.2206G>A
Surrounding Variants
1 paper
NM_000789.4
p.E736insFs
c.2207_2208insT
1 paper
NM_000789.4
p.Q735H
c.2205G>C
1 paper
NM_000789.4
p.Q735H
c.2205G>T
5 papers
NM_000789.4
p.Q735*
c.2203C>T
3 papers
NM_000789.4
p.L737Q
c.2210T>A
5 papers
NM_000789.4
p.E738K
c.2212G>A
3 papers
NM_000789.4
p.A734S
c.2200G>T
3 papers
NM_000789.4
p.E738G
c.2213A>G
3 papers
NM_000789.4
p.E738V
c.2213A>T
1 paper
NM_000789.4
p.A734delFs
c.2200delG
1 paper
NM_000789.4
p.P733S
c.2197C>T
11 papers
NM_000789.4
p.E739K
c.2215G>A
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