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.V30A

c.89T>C

Surrounding Variants

2 papers

NM_006252.4

p.V30M

c.88G>A

2 papers

NM_006252.4

p.K31K

c.93G>A

1 paper

NM_006252.4

p.G28_K29insFs

c.84_85insGG

1 paper

NM_006252.4

p.F27S

c.80T>C

1 paper

NM_006252.4

p.T26T

c.78C>T

1 paper

NM_006252.4

p.G25D

c.74G>A

1 paper

NM_006252.4

p.G23G

c.69C>T

1 paper

NM_006252.4

p.T21T

c.63G>A

1 paper

NM_006252.4

p.G19C

c.55G>T

1 paper

NM_006252.4

p.L18P

c.53T>C

1 paper

NM_006252.4

p.L18L

c.52C>T

1 paper

NM_006252.4

p.H15delFs

c.45delC