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.Y83N

c.247T>A

Surrounding Variants

10 papers

NM_001371415.1

p.Y83H

c.247T>C

17 papers

NM_001371415.1

p.M82I

c.246G>T

17 papers

NM_001371415.1

p.M82I

c.246G>C

17 papers

NM_001371415.1

p.M82I

c.246G>A

2 papers

NM_001371415.1

p.Y83F

c.248A>T

3 papers

NM_001371415.1

p.M82T

c.245T>C

1 paper

NM_001371415.1

p.P84S

c.250C>T

1 paper

NM_001371415.1

p.P84A

c.250C>G

7 papers

NM_001371415.1

p.P84T

c.250C>A

2 papers

NM_001371415.1

p.P84L

c.251C>T

2 papers

NM_001371415.1

p.Q81L

c.242A>T

1 paper

NM_001371415.1

p.P84P

c.252A>T