Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.S1287N

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
2 papers
NM_000789.4
p.S1287N
c.3860G>A
Surrounding Variants
1 paper
NM_000789.4
p.S1287R
c.3859A>C
1 paper
NM_000789.4
p.S1287G
c.3859A>G
1 paper
NM_000789.4
p.S1287R
c.3861C>A
1 paper
NM_000789.4
p.S1287R
c.3861C>G
3 papers
NM_000789.4
p.L1288F
c.3862C>T
3 papers
NM_000789.4
p.R1286H
c.3857G>A
5 papers
NM_000789.4
p.R1286S
c.3856C>A
3 papers
NM_000789.4
p.R1286C
c.3856C>T
3 papers
NM_000789.4
p.H1289R
c.3866A>G
5 papers
NM_000789.4
p.R1290W
c.3868C>T
4 papers
NM_000789.4
p.R1290Q
c.3869G>A
2 papers
NM_000789.4
p.R1284H
c.3851G>A
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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."