Varaico: Literature-Extracted Genetic Variants

PRKAB1

32 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 78–161UCSCGlycogen recognition site of AMP-activated protein kinase

AMPKBIaa 199–269UCSC5'-AMP-activated protein kinase beta subunit, interaction domain

Gene Aliases

HGNC Name

protein kinase AMP-activated non-catalytic subunit beta 1

HGNC Previous Name

protein kinase, AMP-activated, beta 1 non-catalytic subunit

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_006253.5

p.S25fs

c.73_74fs

Surrounding Variants

2 papers

NM_006253.5

p.G27V

c.80G>T

2 papers

NM_006253.5

p.R21W

c.61C>T

1 paper

NM_006253.5

p.K29R

c.86A>G

1 paper

NM_006253.5

p.K29N

c.87G>C

1 paper

NM_006253.5

p.K29N

c.87G>T

1 paper

NM_006253.5

p.P20fs

c.58_59fs

1 paper

NM_006253.5

p.P20delFs

c.58delC

1 paper

NM_006253.5

p.E42*

c.124G>T

1 paper

NM_006253.5

p.D45N

c.133G>A

1 paper

NM_006253.5

p.A73D

c.218C>A

1 paper

NM_006253.5

p.V81M

c.241G>A

2 papers

NM_006253.5

p.V81A

c.242T>C