Varaico: Literature-Extracted Genetic Variants

PRKAG1

47 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

CBSaa 39–97UCSCCBS domain

CBSaa 122–178UCSCCBS domain

CBSaa 195–252UCSCCBS domain

CBSaa 274–324UCSCCBS domain

Gene Aliases

HGNC Name

protein kinase AMP-activated non-catalytic subunit gamma 1

HGNC Previous Name

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

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_002733.5

p.N15S

c.44A>G

Surrounding Variants

1 paper

NM_002733.5

p.P11fs

c.31_32fs

1 paper

NM_002733.5

p.P11delFs

c.31_32delGG

1 paper

NM_002733.5

p.S31_F32del2

c.91_95del6

1 paper

NM_002733.5

p.R37H

c.110G>A

1 paper

NM_002733.5

p.C38Y

c.113G>A

1 paper

NM_002733.5

p.Y39*

c.117T>A

1 paper

NM_002733.5

p.S45N

c.134G>A

1 paper

NM_002733.5

p.S46T

c.136T>A

1 paper

NM_002733.5

p.T53M

c.158C>T

1 paper

NM_002733.5

p.K58N

c.174G>T

1 paper

NM_002733.5

p.A63V

c.188C>T

1 paper

NM_002733.5

p.V65L

c.193G>T