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.R138*

c.412C>T

Surrounding Variants

1 paper

NM_006252.4

p.R138insFs

c.412_413insT

1 paper

NM_006252.4

p.R138Q

c.413G>A

1 paper

NM_006252.4

p.R138L

c.413G>T

1 paper

NM_006252.4

p.R138_L140del0

c.414_419del6

1 paper

NM_006252.4

p.H137insFs

c.411dupT

2 papers

NM_006252.4

p.H137Y

c.409C>T

6 papers

NM_006252.4

p.D139A

c.416A>C

1 paper

NM_006252.4

p.L140M

c.418C>A

1 paper

NM_006252.4

p.V135_H137delFs

c.405_409del5

1 paper

NM_006252.4

p.M134I

c.402G>A

1 paper

NM_006252.4

p.M134I

c.402G>C

1 paper

NM_006252.4

p.M134I

c.402G>T