Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.L1250V

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.L1250V
c.3748C>G
Surrounding Variants
3 papers
NM_000789.4
p.D1249A
c.3746A>C
5 papers
NM_000789.4
p.A1252V
c.3755C>T
3 papers
NM_000789.4
p.G1247V
c.3740G>T
4 papers
NM_000789.4
p.Q1253*
c.3757C>T
1 paper
NM_000789.4
p.Q1254E
c.3760C>G
3 papers
NM_000789.4
p.F1245L
c.3735C>A
3 papers
NM_000789.4
p.F1245L
c.3735C>G
3 papers
NM_000789.4
p.F1245L
c.3733T>C
1 paper
NM_000789.4
p.S1244N
c.3731G>A
3 papers
NM_000789.4
p.R1256C
c.3766C>T
4 papers
NM_000789.4
p.R1256H
c.3767G>A
4 papers
NM_000789.4
p.V1257M
c.3769G>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."