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

3 papers

NM_016203.4

p.F293L

c.879C>A

Surrounding Variants

2 papers

NM_016203.4

p.F293L

c.879C>G

1 paper

NM_016203.4

p.F293V

c.877T>G

2 papers

NM_016203.4

p.F293L

c.877T>C

2 papers

NM_016203.4

p.A295S

c.883G>T

1 paper

NM_016203.4

p.K291delFs

c.872delT

1 paper

NM_016203.4

p.K291fs

c.871_872fs

4 papers

NM_016203.4

p.K290I

c.869A>T

1 paper

NM_016203.4

p.V289A

c.866T>C

1 paper

NM_016203.4

p.V289I

c.865G>A

1 paper

NM_016203.4

p.V297del1

c.889_891delTAC

1 paper

NM_016203.4

p.N299_G300delFs

c.896_899del4

5 papers

NM_016203.4

p.R302G

c.904C>G