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.E231A

c.692A>C

Surrounding Variants

1 paper

NM_001371415.1

p.F230V

c.688T>G

1 paper

NM_001371415.1

p.E232_I233Splc

c.696+2T>A

4 papers

NM_001371415.1

p.T229I

c.686C>T

1 paper

NM_001371415.1

p.E232_I233Splc

c.696+3A>G

1 paper

NM_001371415.1

p.T229P

c.685A>C

1 paper

NM_001371415.1

p.H228Q

c.684T>G

1 paper

NM_001371415.1

p.H228H

c.684T>C

1 paper

NM_001371415.1

p.H228Q

c.684T>A

1 paper

NM_001371415.1

p.H228P

c.683A>C

1 paper

NM_001371415.1

p.H228Y

c.682C>T

1 paper

NM_001371415.1

p.V226G

c.677T>G

1 paper

NM_001371415.1

p.V226L

c.676G>T