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.L45V

c.133C>G

Surrounding Variants

1 paper

NM_001371415.1

p.L45F

c.133C>T

1 paper

NM_001371415.1

p.L45H

c.134T>A

1 paper

NM_001371415.1

p.S44L

c.131C>T

2 papers

NM_001371415.1

p.S44A

c.130T>G

1 paper

NM_001371415.1

p.S44P

c.130T>C

2 papers

NM_001371415.1

p.A46S

c.136G>T

6 papers

NM_001371415.1

p.S43R

c.129T>G

7 papers

NM_001371415.1

p.S43R

c.129T>A

3 papers

NM_001371415.1

p.A46V

c.137C>T

1 paper

NM_001371415.1

p.A46D

c.137C>A

1 paper

NM_001371415.1

p.A46Fs

c.137delinsAAAFs

6 papers

NM_001371415.1

p.S43N

c.128G>A