Varaico: Literature-Extracted Genetic Variants

PRKAB2

46 papers

RefSeq Summary

The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma s...

Pfam Domains

AMPK1_CBMaa 77–161UCSCGlycogen recognition site of AMP-activated protein kinase

AMPKBIaa 201–271UCSC5'-AMP-activated protein kinase beta subunit, interaction domain

Gene Aliases

HGNC Name

protein kinase AMP-activated non-catalytic subunit beta 2

HGNC Previous Name

protein kinase, AMP-activated, beta 2 non-catalytic subunit

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005399.5

p.D180Splc

c.538+839C>A

Surrounding Variants

1 paper

NM_005399.5

p.L168insFs

c.503dupT

1 paper

NM_005399.5

p.D117H

c.349G>C

1 paper

NM_005399.5

p.I115T

c.344T>C

1 paper

NM_005399.5

p.K102*

c.304A>T

1 paper

NM_005399.5

p.S95F

c.284C>T

1 paper

NM_005399.5

p.S93A

c.277T>G

1 paper

NM_005399.5

p.S84F

c.251C>T

1 paper

NM_005399.5

p.W83G

c.247T>G

1 paper

NM_005399.5

p.V60_S61insAGC

c.178_182ins9

1 paper

NM_005399.5

p.G55E

c.164G>A

1 paper

NM_005399.5

p.S182A

c.544T>G

1 paper

NM_005399.5

p.S184A

c.550T>G