Varaico: Literature-Extracted Genetic Variants

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

Gene Aliases

HGNC Name

angiotensin converting enzyme 2

HGNC Alias Symbol

ACEH

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

41 papers

NM_001371415.1

p.S19P

c.55T>C

Surrounding Variants

8 papers

NM_001371415.1

p.S19T

c.55T>A

1 paper

NM_001371415.1

p.Q18_S19insFs

c.54_55insA

1 paper

NM_001371415.1

p.S19C

c.56C>G

1 paper

NM_001371415.1

p.Q18L

c.53A>T

1 paper

NM_001371415.1

p.Q18K

c.52C>A

3 papers

NM_001371415.1

p.T20S

c.58A>T

1 paper

NM_001371415.1

p.T20A

c.58A>G

1 paper

NM_001371415.1

p.T20P

c.58A>C

2 papers

NM_001371415.1

p.T20I

c.59C>T

1 paper

NM_001371415.1

p.T20S

c.59C>G

44 papers

NM_001371415.1

p.T20N

c.59C>A

1 paper

NM_001371415.1

p.T20T

c.60C>T