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.I753T

c.2258T>C

Surrounding Variants

4 papers

NM_001371415.1

p.I753M

c.2259A>G

1 paper

NM_001371415.1

p.V752M

c.2254G>A

1 paper

NM_001371415.1

p.V755A

c.2264T>C

3 papers

NM_001371415.1

p.G751E

c.2252G>A

6 papers

NM_001371415.1

p.V749V

c.2247G>A

1 paper

NM_001371415.1

p.I757V

c.2269A>G

1 paper

NM_001371415.1

p.V758F

c.2272G>T

1 paper

NM_001371415.1

p.L760M

c.2278C>A

3 papers

NM_001371415.1

p.I761V

c.2281A>G

5 papers

NM_001371415.1

p.V745I

c.2233G>A

1 paper

NM_001371415.1

p.F762L

c.2284T>C

1 paper

NM_001371415.1

p.F762L

c.2286C>G