Varaico: Literature-Extracted Genetic Variants

Gene:ACE2
Variant:p.M474L

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.M474L
c.1420A>C
Surrounding Variants
1 paper
NM_001371415.1
p.M474L
c.1420A>T
1 paper
NM_001371415.1
p.M474R
c.1421T>G
1 paper
NM_001371415.1
p.W473*
c.1419G>A
1 paper
NM_001371415.1
p.M474I
c.1422G>T
1 paper
NM_001371415.1
p.W473L
c.1418G>T
1 paper
NM_001371415.1
p.M474I
c.1422G>C
1 paper
NM_001371415.1
p.M474I
c.1422G>A
1 paper
NM_001371415.1
p.W473*
c.1418G>A
1 paper
NM_001371415.1
p.W473G
c.1417T>G
1 paper
NM_001371415.1
p.W473R
c.1417T>C
1 paper
NM_001371415.1
p.W473R
c.1417T>A
1 paper
NM_001371415.1
p.Q472H
c.1416G>T
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