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

3 papers

NM_006252.4

p.R72P

c.215G>C

Surrounding Variants

1 paper

NM_006252.4

p.R72H

c.215G>A

1 paper

NM_006252.4

p.R72C

c.214C>T

1 paper

NM_006252.4

p.F71Y

c.212T>A

1 paper

NM_006252.4

p.P74S

c.220C>T

1 paper

NM_006252.4

p.L70H

c.209T>A

1 paper

NM_006252.4

p.P74P

c.222T>A

1 paper

NM_006252.4

p.H75Y

c.223C>T

1 paper

NM_006252.4

p.L68R

c.203T>G

1 paper

NM_006252.4

p.I76_I77delFs

c.228_229delTA

1 paper

NM_006252.4

p.I77T

c.230T>C

1 paper

NM_006252.4

p.N67D

c.199A>G

1 paper

NM_006252.4

p.K78*

c.232A>T