Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.R1290W

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.R1290W
c.3868C>T
Surrounding Variants
4 papers
NM_000789.4
p.R1290Q
c.3869G>A
3 papers
NM_000789.4
p.H1289R
c.3866A>G
3 papers
NM_000789.4
p.H1291P
c.3872A>C
3 papers
NM_000789.4
p.L1288F
c.3862C>T
1 paper
NM_000789.4
p.S1287R
c.3861C>A
1 paper
NM_000789.4
p.S1287R
c.3861C>G
2 papers
NM_000789.4
p.S1287N
c.3860G>A
1 paper
NM_000789.4
p.S1287R
c.3859A>C
1 paper
NM_000789.4
p.S1287G
c.3859A>G
4 papers
NM_000789.4
p.H1293Y
c.3877C>T
3 papers
NM_000789.4
p.H1293Q
c.3879C>A
3 papers
NM_000789.4
p.H1293Q
c.3879C>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."