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.A2T

c.4G>A

Surrounding Variants

1 paper

NM_006252.4

p.A2V

c.5C>T

1 paper

NM_006252.4

p.M1T

c.2T>C

1 paper

NM_006252.4

p.M1R

c.2T>G

1 paper

NM_006252.4

p.M1insFs

c.2dupT

2 papers

NM_006252.4

p.M1V

c.1A>G

1 paper

NM_006252.4

p.E3Q

c.7G>C

1 paper

NM_006252.4

p.E3insFs

c.7_8insA

1 paper

NM_006252.4

p.M1_A2delFs

c.1_5del5

1 paper

NM_006252.4

p.K4Q

c.10A>C

1 paper

NM_006252.4

p.M1_Q5del5

c.1_14del15

1 paper

NM_006252.4

p.K4K

c.12G>A

5 papers

NM_006252.4

p.K4N

c.12G>C