Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.F257L

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.F257L
c.769T>C
Surrounding Variants
3 papers
NM_000789.4
p.F257L
c.771C>A
3 papers
NM_000789.4
p.F257L
c.771C>G
6 papers
NM_000789.4
p.V258I
c.772G>A
2 papers
NM_000789.4
p.H255Q
c.765T>A
2 papers
NM_000789.4
p.H255Q
c.765T>G
1 paper
NM_000789.4
p.V258V
c.774C>T
1 paper
NM_000789.4
p.H255N
c.763C>A
2 papers
NM_000789.4
p.H255D
c.763C>G
4 papers
NM_000789.4
p.R259C
c.775C>T
1 paper
NM_000789.4
p.L254L
c.762C>T
7 papers
NM_000789.4
p.R259H
c.776G>A
1 paper
NM_000789.4
p.L254H
c.761T>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."