Varaico: Literature-Extracted Genetic Variants

Gene:ACE2
Variant:p.A36V

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
3 papers
NM_001371415.1
p.A36V
c.107C>T
Surrounding Variants
1 paper
NM_001371415.1
p.A36insFs
c.107_108ins5
1 paper
NM_001371415.1
p.E35_A36delFs
c.104_107del4
1 paper
NM_001371415.1
p.E37*
c.109G>T
34 papers
NM_001371415.1
p.E37K
c.109G>A
11 papers
NM_001371415.1
p.E35D
c.105A>T
11 papers
NM_001371415.1
p.E35D
c.105A>C
2 papers
NM_001371415.1
p.E35V
c.104A>T
1 paper
NM_001371415.1
p.E37V
c.110A>T
1 paper
NM_001371415.1
p.E37G
c.110A>G
2 papers
NM_001371415.1
p.E37A
c.110A>C
1 paper
NM_001371415.1
p.E35A
c.104A>C
1 paper
NM_001371415.1
p.E35*
c.103G>T
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