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.E312*

c.934G>T

Surrounding Variants

10 papers

NM_001371415.1

p.E312K

c.934G>A

1 paper

NM_001371415.1

p.A311A

c.933C>T

2 papers

NM_001371415.1

p.A311A

c.933C>G

1 paper

NM_001371415.1

p.E312A

c.935A>C

3 papers

NM_001371415.1

p.A311V

c.932C>T

1 paper

NM_001371415.1

p.A311D

c.932C>A

2 papers

NM_001371415.1

p.A311S

c.931G>T

1 paper

NM_001371415.1

p.A311T

c.931G>A

1 paper

NM_001371415.1

p.E312insFs

c.936dupG

1 paper

NM_001371415.1

p.E310E

c.930G>A

1 paper

NM_001371415.1

p.K313T

c.938A>C

2 papers

NM_001371415.1

p.K313K

c.939G>A