Varaico: Literature-Extracted Genetic Variants

Gene:ACE
Variant:p.Y244H

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.Y244H
c.730T>C
Surrounding Variants
4 papers
NM_000789.4
p.Y244fs
c.730_731fs
2 papers
NM_000789.4
p.Y244S
c.731A>C
22 papers
NM_000789.4
p.Y244C
c.731A>G
3 papers
NM_000789.4
p.Q245E
c.733C>G
3 papers
NM_000789.4
p.H242Y
c.724C>T
1 paper
NM_000789.4
p.L247V
c.739C>G
1 paper
NM_000789.4
p.E241K
c.721G>A
3 papers
NM_000789.4
p.E241Q
c.721G>C
1 paper
NM_000789.4
p.E241*
c.721G>T
3 papers
NM_000789.4
p.L247P
c.740T>C
1 paper
NM_000789.4
p.L240Q
c.719T>A
1 paper
NM_000789.4
p.L240V
c.718C>G
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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."