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.I105V

c.313A>G

Surrounding Variants

4 papers

NM_006252.4

p.Y104C

c.311A>G

1 paper

NM_006252.4

p.F102F

c.306T>C

1 paper

NM_006252.4

p.H108delFs

c.322delC

1 paper

NM_006252.4

p.F102C

c.305T>G

1 paper

NM_006252.4

p.L101insFs

c.302_303insCG

1 paper

NM_006252.4

p.R110W

c.328C>T

2 papers

NM_006252.4

p.E100K

c.298G>A

1 paper

NM_006252.4

p.G98*

c.292G>T

1 paper

NM_006252.4

p.S97F

c.290C>T

1 paper

NM_006252.4

p.S97P

c.289T>C

1 paper

NM_006252.4

p.E94fs

c.280_281fs

1 paper

NM_006252.4

p.M93I

c.279G>A