Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.S1233L

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
3 papers
NM_000789.4
p.S1233L
c.3698C>T
Surrounding Variants
4 papers
NM_000789.4
p.R1232H
c.3695G>A
4 papers
NM_000789.4
p.R1232C
c.3694C>T
3 papers
NM_000789.4
p.P1236L
c.3707C>T
1 paper
NM_000789.4
p.P1238S
c.3712C>T
3 papers
NM_000789.4
p.D1239G
c.3716A>G
3 papers
NM_000789.4
p.D1239E
c.3717C>A
3 papers
NM_000789.4
p.D1239E
c.3717C>G
5 papers
NM_000789.4
p.G1241S
c.3721G>A
3 papers
NM_000789.4
p.R1242C
c.3724C>T
4 papers
NM_000789.4
p.R1242H
c.3725G>A
1 paper
NM_000789.4
p.S1244N
c.3731G>A
3 papers
NM_000789.4
p.F1245L
c.3733T>C
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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."