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.Y196S

c.587A>C

Surrounding Variants

1 paper

NM_001371415.1

p.Y196N

c.586T>A

4 papers

NM_001371415.1

p.E197K

c.589G>A

2 papers

NM_001371415.1

p.E197G

c.590A>G

1 paper

NM_001371415.1

p.H195R

c.584A>G

1 paper

NM_001371415.1

p.H195P

c.584A>C

6 papers

NM_001371415.1

p.H195Y

c.583C>T

3 papers

NM_001371415.1

p.H195N

c.583C>A

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.H195Splc

c.584-2A>G

1 paper

NM_001371415.1

p.D198G

c.593A>G

1 paper

NM_001371415.1

p.D198E

c.594C>G