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.V195A

c.584T>C

Surrounding Variants

1 paper

NM_006252.4

p.D196delFs

c.587_588delAT

1 paper

NM_006252.4

p.P193S

c.577C>T

1 paper

NM_006252.4

p.G192C

c.574G>T

1 paper

NM_006252.4

p.S199_C200delFs

c.597_598delCT

1 paper

NM_006252.4

p.R188Splc

c.564-1G>T

1 paper

NM_006252.4

p.L207F

c.619C>T

1 paper

NM_006252.4

p.G210delFs

c.629delG

1 paper

NM_006252.4

p.G210G

c.630C>T

1 paper

NM_006252.4

p.T211I

c.632C>T

1 paper

NM_006252.4

p.T211T

c.633C>A

1 paper

NM_006252.4

p.P213S

c.637C>T

2 papers

NM_006252.4

p.E217V

c.650A>T