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.A80V

c.239C>T

Surrounding Variants

2 papers

NM_001371415.1

p.A80G

c.239C>G

1 paper

NM_001371415.1

p.A80P

c.238G>C

2 papers

NM_001371415.1

p.A80T

c.238G>A

22 papers

NM_001371415.1

p.Q81*

c.241C>T

2 papers

NM_001371415.1

p.Q81E

c.241C>G

2 papers

NM_001371415.1

p.L79R

c.236T>G

1 paper

NM_001371415.1

p.L79H

c.236T>A

2 papers

NM_001371415.1

p.Q81L

c.242A>T

2 papers

NM_001371415.1

p.L79F

c.235C>T

2 papers

NM_001371415.1

p.L79I

c.235C>A

3 papers

NM_001371415.1

p.M82T

c.245T>C

17 papers

NM_001371415.1

p.M82I

c.246G>T