Varaico: Literature-Extracted Genetic Variants

Gene:ACE2
Variant:p.F28L

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.F28L
c.82T>C
Surrounding Variants
1 paper
NM_001371415.1
p.F28V
c.82T>G
1 paper
NM_001371415.1
p.T27T
c.81A>T
1 paper
NM_001371415.1
p.F28fs
c.82_83fs
2 papers
NM_001371415.1
p.F28L
c.84T>G
3 papers
NM_001371415.1
p.F28L
c.84T>A
2 papers
NM_001371415.1
p.T27I
c.80C>T
2 papers
NM_001371415.1
p.T27R
c.80C>G
1 paper
NM_001371415.1
p.T27S
c.79A>T
27 papers
NM_001371415.1
p.T27A
c.79A>G
2 papers
NM_001371415.1
p.K26N
c.78G>T
2 papers
NM_001371415.1
p.K26N
c.78G>C
1 paper
NM_001371415.1
p.L29F
c.87G>T
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