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.R115Q

c.344G>A

Surrounding Variants

2 papers

NM_001371415.1

p.R115L

c.344G>T

3 papers

NM_001371415.1

p.R115W

c.343C>T

1 paper

NM_001371415.1

p.R115G

c.343C>G

1 paper

NM_001371415.1

p.R115_L116Splc

c.345+4C>T

1 paper

NM_001371415.1

p.S113N

c.338G>A

1 paper

NM_001371415.1

p.K112T

c.335A>C

2 papers

NM_001371415.1

p.K112E

c.334A>G

3 papers

NM_001371415.1

p.D111N

c.331G>A

1 paper

NM_001371415.1

p.E110D

c.330A>T

1 paper

NM_001371415.1

p.E110V

c.329A>T

1 paper

NM_001371415.1

p.E110K

c.328G>A

1 paper

NM_001371415.1

p.L108R

c.323T>G