Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.N54Y

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.N54Y
c.160A>T
Surrounding Variants
3 papers
NM_000789.4
p.N54S
c.161A>G
2 papers
NM_000789.4
p.Y53*
c.159C>A
2 papers
NM_000789.4
p.Y53*
c.159C>G
1 paper
NM_000789.4
p.N54delFs
c.161delA
3 papers
NM_000789.4
p.Y53C
c.158A>G
1 paper
NM_000789.4
p.S55T
c.163T>A
3 papers
NM_000789.4
p.S55P
c.163T>C
3 papers
NM_000789.4
p.S52R
c.156C>A
3 papers
NM_000789.4
p.S52R
c.156C>G
5 papers
NM_000789.4
p.S55F
c.164C>T
3 papers
NM_000789.4
p.S52N
c.155G>A
3 papers
NM_000789.4
p.S52R
c.154A>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."