Varaico: Literature-Extracted Genetic Variants

Gene:ACE2
Variant:p.D335A

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.D335A
c.1004A>C
Surrounding Variants
1 paper
NM_001371415.1
p.T334T
c.1002G>A
1 paper
NM_001371415.1
p.P336S
c.1006C>T
3 papers
NM_001371415.1
p.T334M
c.1001C>T
1 paper
NM_001371415.1
p.P336L
c.1007C>T
1 paper
NM_001371415.1
p.T334R
c.1001C>G
1 paper
NM_001371415.1
p.T334P
c.1000A>C
4 papers
NM_001371415.1
p.G337R
c.1009G>C
4 papers
NM_001371415.1
p.G337R
c.1009G>A
1 paper
NM_001371415.1
p.L333R
c.998T>G
1 paper
NM_001371415.1
p.G337E
c.1010G>A
1 paper
NM_001371415.1
p.M332I
c.996G>T
1 paper
NM_001371415.1
p.M332I
c.996G>C
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