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

2 papers

NM_006252.4

p.H150R

c.449A>G

Surrounding Variants

1 paper

NM_006252.4

p.A149V

c.446C>T

1 paper

NM_006252.4

p.A149_H150delFs

c.447_448delAC

1 paper

NM_006252.4

p.D148N

c.442G>A

1 paper

NM_006252.4

p.D148_A149delFs

c.442_446del5

1 paper

NM_006252.4

p.L146_L147insFs

c.438_439ins10

1 paper

NM_006252.4

p.L146insFs

c.437dupT

1 paper

NM_006252.4

p.A156P

c.466G>C

1 paper

NM_006252.4

p.V145_D148del4

c.433_443del12

1 paper

NM_006252.4

p.D157N

c.469G>A

20 papers

NM_006252.4

p.D157A

c.470A>C

1 paper

NM_006252.4

p.P142S

c.424C>T

1 paper

NM_006252.4

p.K141N

c.423A>C