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.L29F

c.87G>C

Surrounding Variants

1 paper

NM_001371415.1

p.L29F

c.87G>T

2 papers

NM_001371415.1

p.D30N

c.88G>A

1 paper

NM_001371415.1

p.D30V

c.89A>T

3 papers

NM_001371415.1

p.D30G

c.89A>G

2 papers

NM_001371415.1

p.D30A

c.89A>C

1 paper

NM_001371415.1

p.F28fs

c.82_83fs

2 papers

NM_001371415.1

p.F28L

c.84T>G

3 papers

NM_001371415.1

p.F28L

c.84T>A

4 papers

NM_001371415.1

p.D30E

c.90C>G

4 papers

NM_001371415.1

p.D30E

c.90C>A

1 paper

NM_001371415.1

p.K31*

c.91A>T

3 papers

NM_001371415.1

p.K31E

c.91A>G