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.M1I

c.3G>A

Surrounding Variants

2 papers

NM_001371415.1

p.M1I

c.3G>T

2 papers

NM_001371415.1

p.M1I

c.3G>C

1 paper

NM_001371415.1

p.S2P

c.4T>C

1 paper

NM_001371415.1

p.M1del1

c.1_2delCAT

1 paper

NM_001371415.1

p.S2del1

c.4_5delTGA

1 paper

NM_001371415.1

p.S3insFs

c.7_8insA

4 papers

NM_001371415.1

p.S3N

c.8G>A

1 paper

NM_001371415.1

p.S3R

c.9C>A

1 paper

NM_001371415.1

p.S4A

c.10T>G

1 paper

NM_001371415.1

p.S4Y

c.11C>A

1 paper

NM_001371415.1

p.S4S

c.12T>C

1 paper

NM_001371415.1

p.S5A

c.13T>G