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

5 papers

NM_016203.4

p.R302G

c.904C>G

Surrounding Variants

2 papers

NM_016203.4

p.R302P

c.905G>C

118 papers

NM_016203.4

p.R302Q

c.905G>A

1 paper

NM_016203.4

p.A303S

c.907G>T

1 paper

NM_016203.4

p.N299_G300delFs

c.896_899del4

1 paper

NM_016203.4

p.A304G

c.911C>G

1 paper

NM_016203.4

p.A304A

c.912G>A

1 paper

NM_016203.4

p.P305S

c.913C>T

1 paper

NM_016203.4

p.P305L

c.914C>T

1 paper

NM_016203.4

p.V297del1

c.889_891delTAC

1 paper

NM_016203.4

p.P305delFs

c.914delG

1 paper

NM_016203.4

p.E308Q

c.922G>C

1 paper

NM_016203.4

p.A298_E308delFs

c.893_923del31