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.R204*

c.610A>T

Surrounding Variants

1 paper

NM_001371415.1

p.R204I

c.611G>T

7 papers

NM_001371415.1

p.R204T

c.611G>C

1 paper

NM_001371415.1

p.W203*

c.609G>A

1 paper

NM_001371415.1

p.W203L

c.608G>T

1 paper

NM_001371415.1

p.W203*

c.608G>A

1 paper

NM_001371415.1

p.W203G

c.607T>G

1 paper

NM_001371415.1

p.W203R

c.607T>C

1 paper

NM_001371415.1

p.W203R

c.607T>A

1 paper

NM_001371415.1

p.G205R

c.613G>C

1 paper

NM_001371415.1

p.G205R

c.613G>A

1 paper

NM_001371415.1

p.Y202F

c.605A>T

1 paper

NM_001371415.1

p.Y202S

c.605A>C