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

6 papers

NM_001371415.1

p.Y199C

c.596A>G

Surrounding Variants

2 papers

NM_001371415.1

p.Y199H

c.595T>C

1 paper

NM_001371415.1

p.D198E

c.594C>G

1 paper

NM_001371415.1

p.D198E

c.594C>A

1 paper

NM_001371415.1

p.G200E

c.599G>A

1 paper

NM_001371415.1

p.D198G

c.593A>G

1 paper

NM_001371415.1

p.D198Y

c.592G>T

4 papers

NM_001371415.1

p.D198N

c.592G>A

1 paper

NM_001371415.1

p.D201fs

c.601_602fs

1 paper

NM_001371415.1

p.D201N

c.601G>A

2 papers

NM_001371415.1

p.E197G

c.590A>G

1 paper

NM_001371415.1

p.D201delFs

c.601delC

4 papers

NM_001371415.1

p.E197K

c.589G>A