Varaico: Literature-Extracted Genetic Variants

PRKAG2

442 papers

RefSeq Summary

AMP-activated protein kinase (AMPK) is a heterotrimeric protein composed of a catalytic alpha subunit, a noncatalytic beta subunit, and a noncatalytic regulatory gamma subunit. Various forms of each o...

Pfam Domains

CBSaa 225–284UCSCCBS domain

CBSaa 270–329UCSCCBS domain

CBSaa 311–365UCSCCBS domain

CBSaa 385–439UCSCCBS domain

Gene Aliases

HGNC Name

protein kinase AMP-activated non-catalytic subunit gamma 2

HGNC Alias Symbols

AAKG; AAKG2; H91620p; WPWS; CMH6

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_016203.4

p.G145R

c.433G>C

Surrounding Variants

2 papers

NM_016203.4

p.G145R

c.433G>A

1 paper

NM_016203.4

p.P144L

c.431C>T

3 papers

NM_016203.4

p.G146D

c.437G>A

1 paper

NM_016203.4

p.S143S

c.429G>A

10 papers

NM_016203.4

p.T142I

c.425C>T

1 paper

NM_016203.4

p.I147I

c.441C>A

1 paper

NM_016203.4

p.T142A

c.424A>G

1 paper

NM_016203.4

p.F149V

c.445T>G

1 paper

NM_016203.4

p.F149delins

c.445_446delinsAA

1 paper

NM_016203.4

p.P140S

c.418C>T

2 papers

NM_016203.4

p.R152H

c.455G>A

1 paper

NM_016203.4

p.N137H

c.409A>C