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

1–12 of 67 variants

2 papers

NM_006251.6

p.L33R

c.98T>G

2 papers

NM_006251.6

p.K45R

c.134A>G

2 papers

NM_006251.6

p.K71R

c.212A>G

2 papers

NM_006251.6

p.E545K

c.1633G>A

1 paper

NM_006251.6

p.R2H

c.5G>A

1 paper

NM_006251.6

p.S5R

c.13A>C

1 paper

NM_006251.6

p.S5R

c.15T>G

1 paper

NM_006251.6

p.S5R

c.15T>A

1 paper

NM_006251.6

p.R8I

c.23G>T

1 paper

NM_006251.6

p.K17E

c.49A>G

1 paper

NM_006251.6

p.V22fs

c.64_65fs

1 paper

NM_006251.6

p.R21_K23delFs

c.63_69del7