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.H15delFs

c.45delC

Surrounding Variants

1 paper

NM_006252.4

p.G14R

c.40G>C

1 paper

NM_006252.4

p.I13N

c.38T>A

1 paper

NM_006252.4

p.L18L

c.52C>T

1 paper

NM_006252.4

p.L18P

c.53T>C

1 paper

NM_006252.4

p.G19C

c.55G>T

1 paper

NM_006252.4

p.V11Fs

c.32_33delinsGTGFs

1 paper

NM_006252.4

p.G9G

c.27G>A

1 paper

NM_006252.4

p.T21T

c.63G>A

1 paper

NM_006252.4

p.G9W

c.25G>T

1 paper

NM_006252.4

p.D8E

c.24C>A

1 paper

NM_006252.4

p.G9insFs

c.27dupG

1 paper

NM_006252.4

p.D8E

c.24C>G