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

2 papers

NM_001371415.1

p.L722P

c.2165T>C

Surrounding Variants

1 paper

NM_001371415.1

p.E723E

c.2169G>A

4 papers

NM_001371415.1

p.N720S

c.2159A>G

33 papers

NM_001371415.1

p.N720D

c.2158A>G

3 papers

NM_001371415.1

p.D719E

c.2157C>G

3 papers

NM_001371415.1

p.D719E

c.2157C>A

5 papers

NM_001371415.1

p.G726R

c.2176G>C

5 papers

NM_001371415.1

p.G726R

c.2176G>A

4 papers

NM_001371415.1

p.G726E

c.2177G>A

1 paper

NM_001371415.1

p.G726G

c.2178G>A

1 paper

NM_001371415.1

p.I727V

c.2179A>G

1 paper

NM_001371415.1

p.R716L

c.2147G>T

6 papers

NM_001371415.1

p.R716H

c.2147G>A