Varaico: Literature-Extracted Genetic Variants

PRKAA2

844 papers

RefSeq Summary

The protein encoded by this gene is a catalytic subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma su...

Pfam Domains

Pkinaseaa 16–268UCSCProtein kinase domain

AMPK_alpha_AIDaa 288–333UCSCAMP-activated protein kinase, alpha subunit, autoinhibitory domain

AdenylateSensoraa 401–495UCSCAdenylate sensor of SNF1-like protein kinase

Gene Aliases

HGNC Name

protein kinase AMP-activated catalytic subunit alpha 2

HGNC Alias Symbols

AMPK; AMPKa2

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006252.4

p.G167C

c.499G>T

Surrounding Variants

1 paper

NM_006252.4

p.G167A

c.500G>C

1 paper

NM_006252.4

p.D166V

c.497A>T

2 papers

NM_006252.4

p.E168K

c.502G>A

1 paper

NM_006252.4

p.M164I

c.492G>A

2 papers

NM_006252.4

p.M164I

c.492G>C

1 paper

NM_006252.4

p.M164I

c.492G>T

1 paper

NM_006252.4

p.M163I

c.489G>A

1 paper

NM_006252.4

p.M163I

c.489G>C

1 paper

NM_006252.4

p.M163I

c.489G>T

1 paper

NM_006252.4

p.M163delFs

c.488delT

1 paper

NM_006252.4

p.R171I

c.512G>T

1 paper

NM_006252.4

p.N162I

c.485A>T