Varaico: Literature-Extracted Genetic Variants

Gene:ACE2
Variant:p.K353Q

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
2 papers
NM_001371415.1
p.K353Q
c.1057A>C
Surrounding Variants
2 papers
NM_001371415.1
p.K353M
c.1058A>T
1 paper
NM_001371415.1
p.K353R
c.1058A>G
1 paper
NM_001371415.1
p.K353T
c.1058A>C
17 papers
NM_001371415.1
p.G352V
c.1055G>T
1 paper
NM_001371415.1
p.K353N
c.1059G>T
2 papers
NM_001371415.1
p.G352A
c.1055G>C
1 paper
NM_001371415.1
p.K353N
c.1059G>C
1 paper
NM_001371415.1
p.G354S
c.1060G>A
2 papers
NM_001371415.1
p.G354A
c.1061G>C
5 papers
NM_001371415.1
p.G354D
c.1061G>A
1 paper
NM_001371415.1
p.L351L
c.1053G>A
1 paper
NM_001371415.1
p.L351R
c.1052T>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."