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.W48_N49delFs

c.142_145del4

Surrounding Variants

1 paper

NM_001371415.1

p.N49T

c.146A>C

1 paper

NM_001371415.1

p.Y50D

c.148T>G

1 paper

NM_001371415.1

p.Y50N

c.148T>A

1 paper

NM_001371415.1

p.W48L

c.143G>T

12 papers

NM_001371415.1

p.Y50F

c.149A>T

1 paper

NM_001371415.1

p.Y50S

c.149A>C

1 paper

NM_001371415.1

p.W48G

c.142T>G

2 papers

NM_001371415.1

p.W48R

c.142T>C

1 paper

NM_001371415.1

p.W48R

c.142T>A

1 paper

NM_001371415.1

p.S47S

c.141T>A

6 papers

NM_001371415.1

p.N51D

c.151A>G

1 paper

NM_001371415.1

p.N51H

c.151A>C