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.Q42L

c.125A>T

Surrounding Variants

2 papers

NM_001371415.1

p.Q42R

c.125A>G

1 paper

NM_001371415.1

p.Q42P

c.125A>C

2 papers

NM_001371415.1

p.Q42E

c.124C>G

1 paper

NM_001371415.1

p.Q42H

c.126A>T

1 paper

NM_001371415.1

p.Q42H

c.126A>C

1 paper

NM_001371415.1

p.Y41*

c.123T>A

6 papers

NM_001371415.1

p.S43R

c.127A>C

6 papers

NM_001371415.1

p.S43N

c.128G>A

1 paper

NM_001371415.1

p.Y41C

c.122A>G

6 papers

NM_001371415.1

p.S43R

c.129T>G

3 papers

NM_001371415.1

p.Y41H

c.121T>C

7 papers

NM_001371415.1

p.S43R

c.129T>A