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

13 papers

NM_001371415.1

p.D206G

c.617A>G

Surrounding Variants

1 paper

NM_001371415.1

p.D206A

c.617A>C

6 papers

NM_001371415.1

p.Y207C

c.620A>G

1 paper

NM_001371415.1

p.Y207S

c.620A>C

1 paper

NM_001371415.1

p.G205R

c.613G>C

1 paper

NM_001371415.1

p.G205R

c.613G>A

1 paper

NM_001371415.1

p.R204I

c.611G>T

7 papers

NM_001371415.1

p.R204T

c.611G>C

1 paper

NM_001371415.1

p.E208A

c.623A>C

1 paper

NM_001371415.1

p.E208D

c.624A>T

1 paper

NM_001371415.1

p.R204*

c.610A>T

1 paper

NM_001371415.1

p.E208D

c.624A>C

3 papers

NM_001371415.1

p.V209I

c.625G>A