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

2 papers

NM_001371415.1

p.I468N

c.1403T>A

Surrounding Variants

2 papers

NM_001371415.1

p.I468S

c.1403T>G

12 papers

NM_001371415.1

p.I468T

c.1403T>C

1 paper

NM_001371415.1

p.I468M

c.1404T>G

5 papers

NM_001371415.1

p.I468F

c.1402A>T

23 papers

NM_001371415.1

p.I468V

c.1402A>G

3 papers

NM_001371415.1

p.I468L

c.1402A>C

1 paper

NM_001371415.1

p.E467D

c.1401A>T

1 paper

NM_001371415.1

p.E467D

c.1401A>C

5 papers

NM_001371415.1

p.E467K

c.1399G>A

1 paper

NM_001371415.1

p.G466V

c.1397G>T

1 paper

NM_001371415.1

p.G466A

c.1397G>C

1 paper

NM_001371415.1

p.K470T

c.1409A>C