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.E75K

c.223G>A

Surrounding Variants

2 papers

NM_001371415.1

p.E75G

c.224A>G

1 paper

NM_001371415.1

p.E75A

c.224A>C

1 paper

NM_001371415.1

p.E75D

c.225A>T

1 paper

NM_001371415.1

p.E75E

c.225A>G

1 paper

NM_001371415.1

p.E75D

c.225A>C

1 paper

NM_001371415.1

p.K74T

c.221A>C

1 paper

NM_001371415.1

p.K74*

c.220A>T

2 papers

NM_001371415.1

p.L73F

c.219A>T

2 papers

NM_001371415.1

p.L73F

c.219A>C

1 paper

NM_001371415.1

p.L73delFs

c.218delA

1 paper

NM_001371415.1

p.L73*

c.218T>G

1 paper

NM_001371415.1

p.L73S

c.218T>C