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

1 paper

NM_016203.4

p.D549E

c.1647C>A

Surrounding Variants

1 paper

NM_016203.4

p.D549E

c.1647C>G

2 papers

NM_016203.4

p.I550fs

c.1648_1649fs

1 paper

NM_016203.4

p.I550L

c.1648A>C

2 papers

NM_016203.4

p.I550insFs

c.1648dupA

2 papers

NM_016203.4

p.S548L

c.1643C>T

18 papers

NM_016203.4

p.S548P

c.1642T>C

1 paper

NM_016203.4

p.I541I

c.1623T>C

1 paper

NM_016203.4

p.S540N

c.1619G>A

1 paper

NM_016203.4

p.G560Splc

c.1678+1G>A

1 paper

NM_016203.4

p.D539N

c.1615G>A

1 paper

NM_016203.4

p.V535G

c.1604T>G

1 paper

NM_016203.4

p.V534G

c.1601T>G