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

4 papers

NM_001371415.1

p.D38E

c.114C>A

Surrounding Variants

4 papers

NM_001371415.1

p.D38E

c.114C>G

1 paper

NM_001371415.1

p.L39V

c.115C>G

1 paper

NM_001371415.1

p.L39M

c.115C>A

12 papers

NM_001371415.1

p.D38V

c.113A>T

1 paper

NM_001371415.1

p.D38G

c.113A>G

4 papers

NM_001371415.1

p.D38A

c.113A>C

1 paper

NM_001371415.1

p.L39Q

c.116T>A

1 paper

NM_001371415.1

p.D38Y

c.112G>T

1 paper

NM_001371415.1

p.D38H

c.112G>C

3 papers

NM_001371415.1

p.D38N

c.112G>A

2 papers

NM_001371415.1

p.L39L

c.117G>A

2 papers

NM_001371415.1

p.E37D

c.111A>T