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.A342V

c.1025C>T

Surrounding Variants

1 paper

NM_001371415.1

p.V343G

c.1028T>G

17 papers

NM_001371415.1

p.K341R

c.1022A>G

1 paper

NM_001371415.1

p.K341T

c.1022A>C

1 paper

NM_001371415.1

p.V343delFs

c.1028delA

1 paper

NM_001371415.1

p.C344G

c.1030T>G

1 paper

NM_001371415.1

p.Q340H

c.1020G>T

1 paper

NM_001371415.1

p.Q340H

c.1020G>C

3 papers

NM_001371415.1

p.C344Y

c.1031G>A

1 paper

NM_001371415.1

p.Q340R

c.1019A>G

1 paper

NM_001371415.1

p.Q340P

c.1019A>C

1 paper

NM_001371415.1

p.Q340*

c.1018C>T

4 papers

NM_001371415.1

p.V339G

c.1016T>G