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

6 papers

NM_001371415.1

p.P346S

c.1036C>T

Surrounding Variants

2 papers

NM_001371415.1

p.H345L

c.1034A>T

1 paper

NM_001371415.1

p.H345R

c.1034A>G

1 paper

NM_001371415.1

p.H345P

c.1034A>C

1 paper

NM_001371415.1

p.T347P

c.1039A>C

3 papers

NM_001371415.1

p.C344Y

c.1031G>A

1 paper

NM_001371415.1

p.C344G

c.1030T>G

8 papers

NM_001371415.1

p.A348S

c.1042G>T

2 papers

NM_001371415.1

p.A348P

c.1042G>C

6 papers

NM_001371415.1

p.A348T

c.1042G>A

3 papers

NM_001371415.1

p.A348V

c.1043C>T

1 paper

NM_001371415.1

p.V343delFs

c.1028delA

1 paper

NM_001371415.1

p.V343G

c.1028T>G