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

20 papers

NM_006252.4

p.R531G

c.1591C>G

Surrounding Variants

1 paper

NM_006252.4

p.R531C

c.1591C>T

2 papers

NM_006252.4

p.R531H

c.1592G>A

1 paper

NM_006252.4

p.P530S

c.1588C>T

1 paper

NM_006252.4

p.L532R

c.1595T>G

1 paper

NM_006252.4

p.S527_V528ins1

c.1581_1582insACC

1 paper

NM_006252.4

p.M537I

c.1611G>A

1 paper

NM_006252.4

p.M537I

c.1611G>C

1 paper

NM_006252.4

p.M537I

c.1611G>T

2 papers

NM_006252.4

p.S523G

c.1567A>G

1 paper

NM_006252.4

p.G522G

c.1566A>G

1 paper

NM_006252.4

p.E541K

c.1621G>A

1 paper

NM_006252.4

p.L520V

c.1558T>G