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.Q305R

c.914A>G

Surrounding Variants

1 paper

NM_001371415.1

p.Q305P

c.914A>C

1 paper

NM_001371415.1

p.Q305H

c.915G>C

2 papers

NM_001371415.1

p.Q305*

c.913C>T

1 paper

NM_001371415.1

p.R306I

c.917G>T

1 paper

NM_001371415.1

p.A304V

c.911C>T

1 paper

NM_001371415.1

p.A304T

c.910G>A

1 paper

NM_001371415.1

p.I307L

c.919A>T

1 paper

NM_001371415.1

p.I307V

c.919A>G

1 paper

NM_001371415.1

p.I307L

c.919A>C

1 paper

NM_001371415.1

p.D303G

c.908A>G

1 paper

NM_001371415.1

p.D303A

c.908A>C

7 papers

NM_001371415.1

p.D303N

c.907G>A