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

1–12 of 364 variants

118 papers

NM_016203.4

p.R302Q

c.905G>A

64 papers

NM_016203.4

p.N488I

c.1463A>T

55 papers

NM_016203.4

p.R531Q

c.1592G>A

47 papers

NM_016203.4

p.R531G

c.1591C>G

31 papers

NM_016203.4

p.G100S

c.298G>A

31 papers

NM_016203.4

p.T400N

c.1199C>A

23 papers

NM_016203.4

p.H530R

c.1589A>G

19 papers

NM_016203.4

p.H383R

c.1148A>G

18 papers

NM_016203.4

p.S548P

c.1642T>C

17 papers

NM_016203.4

p.R384T

c.1151G>C

15 papers

NM_016203.4

p.Y487H

c.1459T>C

14 papers

NM_016203.4

p.E506K

c.1516G>A