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.R497*

c.1489A>T

Surrounding Variants

1 paper

NM_006252.4

p.R497K

c.1490G>A

1 paper

NM_006252.4

p.P498A

c.1492C>G

1 paper

NM_006252.4

p.P498L

c.1493C>T

1 paper

NM_006252.4

p.L495*

c.1484T>A

1 paper

NM_006252.4

p.L495*

c.1484T>G

1 paper

NM_006252.4

p.G494Fs

c.1482delinsGCCAGGFs

1 paper

NM_006252.4

p.A493delFs

c.1477_1478delGC

1 paper

NM_006252.4

p.S491Y

c.1472C>A

4 papers

NM_006252.4

p.S491A

c.1471T>G

1 paper

NM_006252.4

p.T505S

c.1513A>T

1 paper

NM_006252.4

p.T506A

c.1516A>G

1 paper

NM_006252.4

p.A507_E508del1

c.1521_1523delAGA