Varaico: Literature-Extracted Genetic Variants

Gene:ACE2
Variant:p.Q325H

ACE2

772 papers

RefSeq Summary

The protein encoded by this gene belongs to the angiotensin-converting enzyme family of dipeptidyl carboxydipeptidases and has considerable homology to human angiotensin 1 converting enzyme. This secr...

Pfam Domains

Peptidase_M2aa 19–606UCSCAngiotensin-converting enzyme
Collectrinaa 617–770UCSCRenal amino acid transporter
Collectrinaa 617–770UCSCRenal amino acid transporter

Gene Aliases

HGNC Name

angiotensin converting enzyme 2

HGNC Alias Symbol

ACEH

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001371415.1
p.Q325H
c.975A>C
Surrounding Variants
1 paper
NM_001371415.1
p.Q325H
c.975A>T
1 paper
NM_001371415.1
p.G326*
c.976G>T
1 paper
NM_001371415.1
p.Q325R
c.974A>G
3 papers
NM_001371415.1
p.Q325P
c.974A>C
1 paper
NM_001371415.1
p.G326A
c.977G>C
17 papers
NM_001371415.1
p.G326E
c.977G>A
1 paper
NM_001371415.1
p.F327V
c.979T>G
1 paper
NM_001371415.1
p.F327L
c.979T>C
1 paper
NM_001371415.1
p.T324I
c.971C>T
2 papers
NM_001371415.1
p.T324S
c.971C>G
1 paper
NM_001371415.1
p.F327C
c.980T>G
2 papers
NM_001371415.1
p.T324S
c.970A>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."