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

1 paper

NM_001371415.1

p.L222L

c.664T>C

Surrounding Variants

1 paper

NM_001371415.1

p.Q221P

c.662A>C

1 paper

NM_001371415.1

p.I223V

c.667A>G

2 papers

NM_001371415.1

p.I223L

c.667A>C

1 paper

NM_001371415.1

p.I223M

c.669T>G

1 paper

NM_001371415.1

p.E224Q

c.670G>C

5 papers

NM_001371415.1

p.G220S

c.658G>A

2 papers

NM_001371415.1

p.E224K

c.670G>A

1 paper

NM_001371415.1

p.E224fs

c.670_671fs

1 paper

NM_001371415.1

p.E224A

c.671A>C

1 paper

NM_001371415.1

p.E224delFs

c.670delC

1 paper

NM_001371415.1

p.R219P

c.656G>C

10 papers

NM_001371415.1

p.R219H

c.656G>A