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.V12V

c.36T>C

Surrounding Variants

3 papers

NM_001371415.1

p.A13T

c.37G>A

2 papers

NM_001371415.1

p.V12I

c.34G>A

1 paper

NM_001371415.1

p.L11L

c.33T>A

2 papers

NM_001371415.1

p.V14I

c.40G>A

1 paper

NM_001371415.1

p.L11F

c.31C>T

1 paper

NM_001371415.1

p.V14V

c.42A>T

1 paper

NM_001371415.1

p.V14_T15insFs

c.42_43ins13

2 papers

NM_001371415.1

p.T15insFs

c.43_44ins13

1 paper

NM_001371415.1

p.T15ins1

c.43_44insCCC

1 paper

NM_001371415.1

p.T15I

c.44C>T

2 papers

NM_001371415.1

p.L9P

c.26T>C

1 paper

NM_001371415.1

p.L9H

c.26T>A