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.N58H

c.172A>C

Surrounding Variants

2 papers

NM_001371415.1

p.N58D

c.172A>G

1 paper

NM_001371415.1

p.E57D

c.171G>T

1 paper

NM_001371415.1

p.E57D

c.171G>C

1 paper

NM_001371415.1

p.N58I

c.173A>T

1 paper

NM_001371415.1

p.N58T

c.173A>C

5 papers

NM_001371415.1

p.N58K

c.174T>G

5 papers

NM_001371415.1

p.N58K

c.174T>A

1 paper

NM_001371415.1

p.E57V

c.170A>T

1 paper

NM_001371415.1

p.E56_E57insFs

c.168_169insCC

1 paper

NM_001371415.1

p.Q60L

c.179A>T

6 papers

NM_001371415.1

p.Q60R

c.179A>G

1 paper

NM_001371415.1

p.T55I

c.164C>T