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.A257E

c.770C>A

Surrounding Variants

2 papers

NM_006252.4

p.A257T

c.769G>A

1 paper

NM_006252.4

p.T258A

c.772A>G

1 paper

NM_006252.4

p.R256Q

c.767G>A

1 paper

NM_006252.4

p.I259delFs

c.777delC

1 paper

NM_006252.4

p.L254Q

c.761T>A

1 paper

NM_006252.4

p.L254P

c.761T>C

1 paper

NM_006252.4

p.R263K

c.788G>A

1 paper

NM_006252.4

p.V251_D252del1

c.752_754delTTG

1 paper

NM_006252.4

p.Q250R

c.749A>G

1 paper

NM_006252.4

p.M248V

c.742A>G

9 papers

NM_006252.4

p.L245R

c.734T>G

1 paper

NM_006252.4

p.T243I

c.728C>T