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

1–12 of 403 variants

30 papers

NM_006252.4

p.K45R

c.134A>G

20 papers

NM_006252.4

p.D157A

c.470A>C

20 papers

NM_006252.4

p.R531G

c.1591C>G

18 papers

NM_006252.4

p.T172A

c.514A>G

9 papers

NM_006252.4

p.L245R

c.734T>G

8 papers

NM_006252.4

p.K78I

c.233A>T

6 papers

NM_006252.4

p.D139A

c.416A>C

5 papers

NM_006252.4

p.K4N

c.12G>C

5 papers

NM_006252.4

p.R53C

c.157C>T

4 papers

NM_006252.4

p.Y104C

c.311A>G

4 papers

NM_006252.4

p.S491A

c.1471T>G

3 papers

NM_006252.4

p.R72P

c.215G>C