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

3 papers

NM_001371415.1

p.F452V

c.1354T>G

Surrounding Variants

1 paper

NM_001371415.1

p.F452L

c.1354T>C

2 papers

NM_001371415.1

p.F452C

c.1355T>G

1 paper

NM_001371415.1

p.F452L

c.1356T>G

1 paper

NM_001371415.1

p.F452L

c.1356T>A

1 paper

NM_001371415.1

p.P451L

c.1352C>T

1 paper

NM_001371415.1

p.T453P

c.1357A>C

1 paper

NM_001371415.1

p.P451fs

c.1351_1352fs

2 papers

NM_001371415.1

p.L450R

c.1349T>G

1 paper

NM_001371415.1

p.L450P

c.1349T>C

5 papers

NM_001371415.1

p.L450V

c.1348C>G

1 paper

NM_001371415.1

p.Y454S

c.1361A>C

1 paper

NM_001371415.1

p.Y454*

c.1362C>G