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.E113K

c.337G>A

Surrounding Variants

1 paper

NM_006252.4

p.A116P

c.346G>C

1 paper

NM_006252.4

p.R117G

c.349A>G

1 paper

NM_006252.4

p.R110_V111Splc

c.331-6T>C

2 papers

NM_006252.4

p.R117R

c.351G>A

1 paper

NM_006252.4

p.F120insFs

c.359dupT

1 paper

NM_006252.4

p.V127E

c.380T>A

1 paper

NM_006252.4

p.C130S

c.388T>A

1 paper

NM_006252.4

p.C130S

c.389G>C

1 paper

NM_006252.4

p.C130*

c.390T>A

1 paper

NM_006252.4

p.M134delFs

c.400delA

1 paper

NM_006252.4

p.M134I

c.402G>A

1 paper

NM_006252.4

p.M134I

c.402G>C