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.W477insFs

c.1430dupG

Surrounding Variants

1 paper

NM_001371415.1

p.W478G

c.1432T>G

1 paper

NM_001371415.1

p.W478R

c.1432T>C

1 paper

NM_001371415.1

p.W478R

c.1432T>A

1 paper

NM_001371415.1

p.W478*

c.1433G>A

1 paper

NM_001371415.1

p.W477*

c.1431G>A

1 paper

NM_001371415.1

p.W478*

c.1434G>A

1 paper

NM_001371415.1

p.W477*

c.1430G>A

1 paper

NM_001371415.1

p.W477G

c.1429T>G

1 paper

NM_001371415.1

p.W477R

c.1429T>C

1 paper

NM_001371415.1

p.W477R

c.1429T>A

1 paper

NM_001371415.1

p.K476N

c.1428G>T

1 paper

NM_001371415.1

p.K476insFs

c.1427dupA