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

19 papers

NM_016203.4

p.H383R

c.1148A>G

Surrounding Variants

2 papers

NM_016203.4

p.R384G

c.1150A>G

1 paper

NM_016203.4

p.K379_N380del2

c.1135_1139del6

17 papers

NM_016203.4

p.R384T

c.1151G>C

1 paper

NM_016203.4

p.I388V

c.1162A>G

1 paper

NM_016203.4

p.D389fs

c.1165_1166fs

1 paper

NM_016203.4

p.V374I

c.1120G>A

2 papers

NM_016203.4

p.D372N

c.1114G>A

3 papers

NM_016203.4

p.S369Splc

c.1107-5C>T

1 paper

NM_016203.4

p.L399F

c.1195C>T

31 papers

NM_016203.4

p.T400N

c.1199C>A

1 paper

NM_016203.4

p.I398_L399del2

c.1192_1196del6

1 paper

NM_016203.4

p.H401Y

c.1201C>T