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.M193I

c.579G>A

Surrounding Variants

1 paper

NM_005399.5

p.P186L

c.557C>T

1 paper

NM_005399.5

p.P186R

c.557C>G

1 paper

NM_005399.5

p.F202L

c.604T>C

1 paper

NM_005399.5

p.F202L

c.606C>G

1 paper

NM_005399.5

p.F202L

c.606C>A

1 paper

NM_005399.5

p.S184A

c.550T>G

1 paper

NM_005399.5

p.S182A

c.544T>G

1 paper

NM_005399.5

p.P209S

c.625C>T

1 paper

NM_005399.5

p.A255S

c.763G>T

1 paper

NM_005399.5

p.D180Splc

c.538+839C>A

1 paper

NM_005399.5

p.L168insFs

c.503dupT

1 paper

NM_005399.5

p.D117H

c.349G>C