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.F314L

c.942C>A

Surrounding Variants

2 papers

NM_001371415.1

p.F314L

c.942C>G

1 paper

NM_001371415.1

p.F315V

c.943T>G

1 paper

NM_001371415.1

p.F314C

c.941T>G

1 paper

NM_001371415.1

p.F315L

c.943T>C

1 paper

NM_001371415.1

p.F314S

c.941T>C

2 papers

NM_001371415.1

p.F314Y

c.941T>A

1 paper

NM_001371415.1

p.F315C

c.944T>G

2 papers

NM_001371415.1

p.F314L

c.940T>C

4 papers

NM_001371415.1

p.K313del1

c.937_938delCTT

1 paper

NM_001371415.1

p.F315L

c.945T>G

1 paper

NM_001371415.1

p.F315L

c.945T>A

2 papers

NM_001371415.1

p.K313K

c.939G>A