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.H34H

c.102C>T

Surrounding Variants

2 papers

NM_001371415.1

p.H34Q

c.102C>G

2 papers

NM_001371415.1

p.H34Q

c.102C>A

1 paper

NM_001371415.1

p.E35*

c.103G>T

3 papers

NM_001371415.1

p.E35Q

c.103G>C

29 papers

NM_001371415.1

p.E35K

c.103G>A

12 papers

NM_001371415.1

p.H34R

c.101A>G

1 paper

NM_001371415.1

p.H34P

c.101A>C

2 papers

NM_001371415.1

p.H34Y

c.100C>T

2 papers

NM_001371415.1

p.H34N

c.100C>A

2 papers

NM_001371415.1

p.E35V

c.104A>T

1 paper

NM_001371415.1

p.E35A

c.104A>C

1 paper

NM_001371415.1

p.N33delFs

c.97delT