Varaico: Literature-Extracted Genetic Variants

Gene:ACE2
Variant:p.F308L

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
6 papers
NM_001371415.1
p.F308L
c.922T>C
Surrounding Variants
1 paper
NM_001371415.1
p.F308V
c.922T>G
6 papers
NM_001371415.1
p.F308L
c.924C>G
6 papers
NM_001371415.1
p.F308L
c.924C>A
1 paper
NM_001371415.1
p.I307L
c.919A>T
1 paper
NM_001371415.1
p.K309E
c.925A>G
1 paper
NM_001371415.1
p.I307V
c.919A>G
1 paper
NM_001371415.1
p.I307L
c.919A>C
1 paper
NM_001371415.1
p.K309T
c.926A>C
1 paper
NM_001371415.1
p.R306I
c.917G>T
1 paper
NM_001371415.1
p.Q305H
c.915G>C
2 papers
NM_001371415.1
p.E310G
c.929A>G
1 paper
NM_001371415.1
p.E310A
c.929A>C
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