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

5 papers

NM_006252.4

p.R53C

c.157C>T

Surrounding Variants

1 paper

NM_006252.4

p.R53G

c.157C>G

2 papers

NM_006252.4

p.R53H

c.158G>A

1 paper

NM_006252.4

p.I52I

c.156T>C

1 paper

NM_006252.4

p.S54delFs

c.161delG

1 paper

NM_006252.4

p.S54_L55del1

c.161_163delGTT

1 paper

NM_006252.4

p.Q50fs

c.148_149fs

1 paper

NM_006252.4

p.D56A

c.167A>C

1 paper

NM_006252.4

p.Q50_R53del0

c.148_159del12

1 paper

NM_006252.4

p.R49_Q50delFs

c.145_148del4

1 paper

NM_006252.4

p.V58V

c.174T>A

1 paper

NM_006252.4

p.L47I

c.139T>A

1 paper

NM_006252.4

p.K60R

c.179A>G