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

7 papers

NM_001371415.1

p.G448E

c.1343G>A

Surrounding Variants

2 papers

NM_001371415.1

p.G448W

c.1342G>T

1 paper

NM_001371415.1

p.V447G

c.1340T>G

9 papers

NM_001371415.1

p.V447F

c.1339G>T

1 paper

NM_001371415.1

p.V447I

c.1339G>A

5 papers

NM_001371415.1

p.I446M

c.1338T>G

5 papers

NM_001371415.1

p.L450V

c.1348C>G

2 papers

NM_001371415.1

p.L450R

c.1349T>G

1 paper

NM_001371415.1

p.L450P

c.1349T>C

1 paper

NM_001371415.1

p.I446V

c.1336A>G

1 paper

NM_001371415.1

p.I446L

c.1336A>C

1 paper

NM_001371415.1

p.T445T

c.1335G>A

1 paper

NM_001371415.1

p.P451fs

c.1351_1352fs