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

4 papers

NM_001371415.1

p.M455I

c.1365G>T

Surrounding Variants

4 papers

NM_001371415.1

p.M455I

c.1365G>C

4 papers

NM_001371415.1

p.M455I

c.1365G>A

1 paper

NM_001371415.1

p.L456V

c.1366T>G

1 paper

NM_001371415.1

p.M455R

c.1364T>G

1 paper

NM_001371415.1

p.L456*

c.1367T>G

1 paper

NM_001371415.1

p.L456*

c.1367T>A

1 paper

NM_001371415.1

p.M455L

c.1363A>T

2 papers

NM_001371415.1

p.M455V

c.1363A>G

1 paper

NM_001371415.1

p.M455L

c.1363A>C

1 paper

NM_001371415.1

p.Y454*

c.1362C>G

1 paper

NM_001371415.1

p.Y454insFs

c.1361dupA

1 paper

NM_001371415.1

p.Y454*

c.1362C>A