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.A17S

c.49G>T

Surrounding Variants

1 paper

NM_001371415.1

p.A17P

c.49G>C

2 papers

NM_001371415.1

p.A17T

c.49G>A

1 paper

NM_001371415.1

p.A16_A17insFs

c.48_49ins7

1 paper

NM_001371415.1

p.A17V

c.50C>T

2 papers

NM_001371415.1

p.A16V

c.47C>T

1 paper

NM_001371415.1

p.A16G

c.47C>G

1 paper

NM_001371415.1

p.A16insFs

c.47_48ins4

1 paper

NM_001371415.1

p.A16S

c.46G>T

1 paper

NM_001371415.1

p.Q18K

c.52C>A

1 paper

NM_001371415.1

p.Q18L

c.53A>T

1 paper

NM_001371415.1

p.Q18_S19insFs

c.54_55insA

1 paper

NM_001371415.1

p.T15I

c.44C>T