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

7 papers

NM_001371415.1

p.S331F

c.992C>T

Surrounding Variants

1 paper

NM_001371415.1

p.S331Y

c.992C>A

1 paper

NM_001371415.1

p.S331A

c.991T>G

1 paper

NM_001371415.1

p.S331S

c.993C>T

2 papers

NM_001371415.1

p.N330K

c.990T>G

2 papers

NM_001371415.1

p.N330K

c.990T>A

9 papers

NM_001371415.1

p.M332L

c.994A>T

9 papers

NM_001371415.1

p.M332L

c.994A>C

1 paper

NM_001371415.1

p.M332T

c.995T>C

1 paper

NM_001371415.1

p.N330S

c.989A>G

1 paper

NM_001371415.1

p.N330T

c.989A>C

1 paper

NM_001371415.1

p.M332I

c.996G>T

1 paper

NM_001371415.1

p.M332I

c.996G>C