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

3 papers

NM_001371415.1

p.W69C

c.207G>T

Surrounding Variants

2 papers

NM_001371415.1

p.W69C

c.207G>C

1 paper

NM_001371415.1

p.S70T

c.208T>A

1 paper

NM_001371415.1

p.K68N

c.204A>T

1 paper

NM_001371415.1

p.K68_S70del3

c.202_209del9

1 paper

NM_001371415.1

p.A71D

c.212C>A

3 papers

NM_001371415.1

p.K68*

c.202A>T

15 papers

NM_001371415.1

p.K68E

c.202A>G

1 paper

NM_001371415.1

p.D67E

c.201C>G

1 paper

NM_001371415.1

p.D67E

c.201C>A

1 paper

NM_001371415.1

p.A71delFs

c.211_212delGC

14 papers

NM_001371415.1

p.F72V

c.214T>G

1 paper

NM_001371415.1

p.F72I

c.214T>A