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.G214S

c.640G>A

Surrounding Variants

2 papers

NM_001371415.1

p.G214C

c.640G>T

1 paper

NM_001371415.1

p.G214_Y215insEPE

c.640_644ins9

1 paper

NM_001371415.1

p.D213E

c.639T>G

1 paper

NM_001371415.1

p.D213E

c.639T>A

1 paper

NM_001371415.1

p.G214D

c.641G>A

1 paper

NM_001371415.1

p.G211_V212del2

c.631_635del6

1 paper

NM_001371415.1

p.Y215N

c.643T>A

1 paper

NM_001371415.1

p.Y215C

c.644A>G

1 paper

NM_001371415.1

p.Y215S

c.644A>C

1 paper

NM_001371415.1

p.V212G

c.635T>G

1 paper

NM_001371415.1

p.V212delins

c.634_635delinsAA

3 papers

NM_001371415.1

p.D216Y

c.646G>T