Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.A123T

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.A123T
c.367G>A
Surrounding Variants
1 paper
NM_000789.4
p.A123S
c.367G>T
3 papers
NM_000789.4
p.A123D
c.368C>A
1 paper
NM_000789.4
p.A123V
c.368C>T
2 papers
NM_000789.4
p.G122R
c.364G>A
1 paper
NM_000789.4
p.V124M
c.370G>A
2 papers
NM_000789.4
p.G122R
c.364G>C
3 papers
NM_000789.4
p.I121M
c.363C>G
3 papers
NM_000789.4
p.V124A
c.371T>C
3 papers
NM_000789.4
p.I121T
c.362T>C
3 papers
NM_000789.4
p.I121V
c.361A>G
1 paper
NM_000789.4
p.I121F
c.361A>T
3 papers
NM_000789.4
p.R125C
c.373C>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."