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.T434insFs

c.1302dupA

Surrounding Variants

1 paper

NM_001371415.1

p.E435fs

c.1303_1304fs

1 paper

NM_001371415.1

p.T434delFs

c.1300delT

1 paper

NM_001371415.1

p.E435D

c.1305A>T

1 paper

NM_001371415.1

p.E435D

c.1305A>C

2 papers

NM_001371415.1

p.I436L

c.1306A>T

1 paper

NM_001371415.1

p.I436L

c.1306A>C

1 paper

NM_001371415.1

p.T434P

c.1300A>C

1 paper

NM_001371415.1

p.T434fs

c.1300_1301fs

1 paper

NM_001371415.1

p.E433D

c.1299A>T

1 paper

NM_001371415.1

p.E433D

c.1299A>C

1 paper

NM_001371415.1

p.E433A

c.1298A>C

1 paper

NM_001371415.1

p.E433*

c.1297G>T