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

2 papers

NM_001371415.1

p.M462I

c.1386G>A

Surrounding Variants

2 papers

NM_001371415.1

p.M462I

c.1386G>T

2 papers

NM_001371415.1

p.M462I

c.1386G>C

5 papers

NM_001371415.1

p.V463I

c.1387G>A

1 paper

NM_001371415.1

p.V463G

c.1388T>G

1 paper

NM_001371415.1

p.M462L

c.1384A>T

1 paper

NM_001371415.1

p.M462L

c.1384A>C

1 paper

NM_001371415.1

p.W461*

c.1383G>A

2 papers

NM_001371415.1

p.F464V

c.1390T>G

4 papers

NM_001371415.1

p.F464L

c.1390T>C

2 papers

NM_001371415.1

p.F464I

c.1390T>A

1 paper

NM_001371415.1

p.W461*

c.1382G>A

1 paper

NM_001371415.1

p.W461G

c.1381T>G