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.A99S

c.295G>T

Surrounding Variants

1 paper

NM_001371415.1

p.A99P

c.295G>C

1 paper

NM_001371415.1

p.A99T

c.295G>A

1 paper

NM_001371415.1

p.L97insFs

c.291dupG

1 paper

NM_001371415.1

p.L100H

c.299T>A

1 paper

NM_001371415.1

p.L97V

c.289C>G

1 paper

NM_001371415.1

p.Q96H

c.288G>T

1 paper

NM_001371415.1

p.Q96H

c.288G>C

1 paper

NM_001371415.1

p.Q101P

c.302A>C

18 papers

NM_001371415.1

p.Q102P

c.305A>C

1 paper

NM_001371415.1

p.L95F

c.283C>T

6 papers

NM_001371415.1

p.N103H

c.307A>C

1 paper

NM_001371415.1

p.V93G

c.278T>G