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

6 papers

NM_001371415.1

p.D216E

c.648C>A

Surrounding Variants

6 papers

NM_001371415.1

p.D216E

c.648C>G

1 paper

NM_001371415.1

p.Y217N

c.649T>A

2 papers

NM_001371415.1

p.D216V

c.647A>T

1 paper

NM_001371415.1

p.D216A

c.647A>C

3 papers

NM_001371415.1

p.D216Y

c.646G>T

1 paper

NM_001371415.1

p.D216N

c.646G>A

3 papers

NM_001371415.1

p.Y217C

c.650A>G

1 paper

NM_001371415.1

p.Y217S

c.650A>C

1 paper

NM_001371415.1

p.Y217*

c.651C>G

1 paper

NM_001371415.1

p.Y217*

c.651C>A

1 paper

NM_001371415.1

p.S218G

c.652A>G

1 paper

NM_001371415.1

p.Y215C

c.644A>G