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

1–12 of 1989 variants

69 papers

NM_001371415.1

p.K26R

c.77A>G

44 papers

NM_001371415.1

p.T20N

c.59C>A

41 papers

NM_001371415.1

p.S19P

c.55T>C

34 papers

NM_001371415.1

p.E37K

c.109G>A

33 papers

NM_001371415.1

p.N720D

c.2158A>G

29 papers

NM_001371415.1

p.E35K

c.103G>A

27 papers

NM_001371415.1

p.T27A

c.79A>G

27 papers

NM_001371415.1

p.T92I

c.275C>T

24 papers

NM_001371415.1

p.D355N

c.1063G>A

23 papers

NM_001371415.1

p.I468V

c.1402A>G

22 papers

NM_001371415.1

p.Q81*

c.241C>T

22 papers

NM_001371415.1

p.G211R

c.631G>C