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

10 papers

NM_001371415.1

p.R716C

c.2146C>T

Surrounding Variants

1 paper

NM_001371415.1

p.R716L

c.2147G>T

6 papers

NM_001371415.1

p.R716H

c.2147G>A

3 papers

NM_001371415.1

p.D719E

c.2157C>G

3 papers

NM_001371415.1

p.D719E

c.2157C>A

33 papers

NM_001371415.1

p.N720D

c.2158A>G

1 paper

NM_001371415.1

p.R710_I711delFs

c.2129_2132del4

4 papers

NM_001371415.1

p.N720S

c.2159A>G

12 papers

NM_001371415.1

p.R710H

c.2129G>A

13 papers

NM_001371415.1

p.R710C

c.2128C>T

2 papers

NM_001371415.1

p.L722P

c.2165T>C

5 papers

NM_001371415.1

p.S709R

c.2127C>G

5 papers

NM_001371415.1

p.S709R

c.2127C>A