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.R219G

c.655C>G

Surrounding Variants

18 papers

NM_001371415.1

p.R219C

c.655C>T

1 paper

NM_001371415.1

p.R219P

c.656G>C

10 papers

NM_001371415.1

p.R219H

c.656G>A

1 paper

NM_001371415.1

p.S218R

c.654C>G

1 paper

NM_001371415.1

p.S218R

c.654C>A

5 papers

NM_001371415.1

p.G220S

c.658G>A

1 paper

NM_001371415.1

p.S218G

c.652A>G

1 paper

NM_001371415.1

p.S218R

c.652A>C

1 paper

NM_001371415.1

p.Y217*

c.651C>G

1 paper

NM_001371415.1

p.Y217*

c.651C>A

3 papers

NM_001371415.1

p.Y217C

c.650A>G

1 paper

NM_001371415.1

p.Y217S

c.650A>C