Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.L254L

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
1 paper
NM_000789.4
p.L254L
c.762C>T
Surrounding Variants
1 paper
NM_000789.4
p.H255N
c.763C>A
2 papers
NM_000789.4
p.H255D
c.763C>G
1 paper
NM_000789.4
p.L254H
c.761T>A
1 paper
NM_000789.4
p.L254F
c.760C>T
2 papers
NM_000789.4
p.H255Q
c.765T>A
2 papers
NM_000789.4
p.H255Q
c.765T>G
2 papers
NM_000789.4
p.L252Q
c.755T>A
3 papers
NM_000789.4
p.L252P
c.755T>C
3 papers
NM_000789.4
p.F257L
c.769T>C
3 papers
NM_000789.4
p.F257L
c.771C>A
3 papers
NM_000789.4
p.F257L
c.771C>G
1 paper
NM_000789.4
p.Y251Y
c.753C>T
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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."