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.L215P

c.644T>C

Surrounding Variants

1 paper

NM_006251.6

p.L233F

c.697C>T

1 paper

NM_006251.6

p.Q261E

c.781C>G

1 paper

NM_006251.6

p.V195A

c.584T>C

1 paper

NM_006251.6

p.N189S

c.566A>G

1 paper

NM_006251.6

p.T183A

c.547A>G

1 paper

NM_006251.6

p.M174I

c.522G>T

1 paper

NM_006251.6

p.M174I

c.522G>C

1 paper

NM_006251.6

p.M174I

c.522G>A

1 paper

NM_006251.6

p.G170D

c.509G>A

1 paper

NM_006251.6

p.D282_L283insTCA

c.844_848ins9

1 paper

NM_006251.6

p.S296S

c.888A>T

1 paper

NM_006251.6

p.M298I

c.894G>T