Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.F220L

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.F220L
c.660C>G
Surrounding Variants
4 papers
NM_000789.4
p.F220L
c.660C>A
2 papers
NM_000789.4
p.F220I
c.658T>A
4 papers
NM_000789.4
p.F220L
c.658T>C
1 paper
NM_000789.4
p.F220V
c.658T>G
4 papers
NM_000789.4
p.D222N
c.664G>A
1 paper
NM_000789.4
p.G219D
c.656G>A
1 paper
NM_000789.4
p.G219A
c.656G>C
1 paper
NM_000789.4
p.D222Y
c.664G>T
3 papers
NM_000789.4
p.D222V
c.665A>T
1 paper
NM_000789.4
p.G219Splc
c.656-2A>T
3 papers
NM_000789.4
p.D222E
c.666C>A
3 papers
NM_000789.4
p.D222E
c.666C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."