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.L456F

c.1368A>T

Surrounding Variants

1 paper

NM_001371415.1

p.L456F

c.1368A>C

2 papers

NM_001371415.1

p.L456insFs

c.1367dupT

1 paper

NM_001371415.1

p.L456*

c.1367T>G

1 paper

NM_001371415.1

p.L456*

c.1367T>A

1 paper

NM_001371415.1

p.L456V

c.1366T>G

4 papers

NM_001371415.1

p.M455I

c.1365G>T

1 paper

NM_001371415.1

p.E457D

c.1371G>T

4 papers

NM_001371415.1

p.M455I

c.1365G>C

1 paper

NM_001371415.1

p.E457D

c.1371G>C

4 papers

NM_001371415.1

p.M455I

c.1365G>A

1 paper

NM_001371415.1

p.M455R

c.1364T>G

3 papers

NM_001371415.1

p.K458E

c.1372A>G