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.D350N

c.1048G>A

Surrounding Variants

1 paper

NM_001371415.1

p.D350Y

c.1048G>T

1 paper

NM_001371415.1

p.D350V

c.1049A>T

2 papers

NM_001371415.1

p.D350A

c.1049A>C

1 paper

NM_001371415.1

p.D350E

c.1050C>G

1 paper

NM_001371415.1

p.D350E

c.1050C>A

1 paper

NM_001371415.1

p.W349G

c.1045T>G

1 paper

NM_001371415.1

p.W349R

c.1045T>C

1 paper

NM_001371415.1

p.W349R

c.1045T>A

1 paper

NM_001371415.1

p.L351L

c.1051C>T

10 papers

NM_001371415.1

p.L351V

c.1051C>G

1 paper

NM_001371415.1

p.L351R

c.1052T>G

1 paper

NM_001371415.1

p.L351L

c.1053G>A