Varaico: Literature-Extracted Genetic Variants

PRKAA1

106 papers

RefSeq Summary

The protein encoded by this gene belongs to the ser/thr protein kinase family. It is the catalytic subunit of the 5'-prime-AMP-activated protein kinase (AMPK). AMPK is a cellular energy sensor conserv...

Pfam Domains

Pkinaseaa 27–279UCSCProtein kinase domain

AMPK_alpha_AIDaa 299–344UCSCAMP-activated protein kinase, alpha subunit, autoinhibitory domain

AdenylateSensoraa 406–503UCSCAdenylate sensor of SNF1-like protein kinase

Gene Aliases

HGNC Name

protein kinase AMP-activated catalytic subunit alpha 1

HGNC Alias Symbol

AMPKa1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006251.6

p.Q61R

c.182A>G

Surrounding Variants

1 paper

NM_006251.6

p.Q61L

c.182A>T

1 paper

NM_006251.6

p.R60Q

c.179G>A

1 paper

NM_006251.6

p.I57L

c.169A>T

1 paper

NM_006251.6

p.D67A

c.200A>C

1 paper

NM_006251.6

p.I63_V69del7

c.187_206del21

2 papers

NM_006251.6

p.K71R

c.212A>G

2 papers

NM_006251.6

p.K45R

c.134A>G

1 paper

NM_006251.6

p.Q77R

c.230A>G

1 paper

NM_006251.6

p.K80R

c.239A>G

1 paper

NM_006251.6

p.I94_S95ins1

c.282_283insTCA

1 paper

NM_006251.6

p.D168A

c.503A>C

1 paper

NM_006251.6

p.G170D

c.509G>A