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.K224R

c.671A>G

Surrounding Variants

1 paper

NM_006252.4

p.K224*

c.670A>T

2 papers

NM_006252.4

p.R227*

c.679C>T

1 paper

NM_006252.4

p.T221delFs

c.662_663delCG

1 paper

NM_006252.4

p.G228_G229del2

c.682_686del6

1 paper

NM_006252.4

p.P220delFs

c.660delT

1 paper

NM_006252.4

p.G228A

c.683G>C

1 paper

NM_006252.4

p.P220S

c.658C>T

1 paper

NM_006252.4

p.G229S

c.685G>A

1 paper

NM_006252.4

p.V219E

c.656T>A

1 paper

NM_006252.4

p.H218delFs

c.654delT

1 paper

NM_006252.4

p.H218insFs

c.652_653insG

2 papers

NM_006252.4

p.E217V

c.650A>T