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

4 papers

NM_016203.4

p.P83S

c.247C>T

Surrounding Variants

1 paper

NM_016203.4

p.Q82R

c.245A>G

1 paper

NM_016203.4

p.Q82P

c.245A>C

3 papers

NM_016203.4

p.R84W

c.250C>T

1 paper

NM_016203.4

p.Q82*

c.244C>T

3 papers

NM_016203.4

p.R84Q

c.251G>A

1 paper

NM_016203.4

p.P85S

c.253C>T

1 paper

NM_016203.4

p.P85T

c.253C>A

1 paper

NM_016203.4

p.G80V

c.239G>T

1 paper

NM_016203.4

p.S86P

c.256T>C

1 paper

NM_016203.4

p.S87N

c.260G>A

1 paper

NM_001040633.2

p.P44S

c.130C>T

1 paper

NM_016203.4

p.P88T

c.262C>A