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

2 papers

NM_006253.5

p.V81A

c.242T>C

Surrounding Variants

1 paper

NM_006253.5

p.V81M

c.241G>A

1 paper

NM_006253.5

p.T85fs

c.253_254fs

1 paper

NM_006253.5

p.A73D

c.218C>A

1 paper

NM_006253.5

p.N99K

c.297C>A

1 paper

NM_006253.5

p.S101I

c.302G>T

1 paper

NM_006253.5

p.H123Y

c.367C>T

1 paper

NM_006253.5

p.H123L

c.368A>T

1 paper

NM_006253.5

p.H123Q

c.369T>A

1 paper

NM_006253.5

p.H123Q

c.369T>G

1 paper

NM_006253.5

p.F127_F128ins1

c.381_382insATC

1 paper

NM_006253.5

p.F128S

c.383T>C

1 paper

NM_006253.5

p.L146_G147ins2

c.438_439ins6