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.I524R

c.1571T>G

Surrounding Variants

1 paper

NM_016203.4

p.I524_V525insC

c.1570_1574ins3

1 paper

NM_016203.4

p.R523K

c.1568G>A

1 paper

NM_016203.4

p.D522N

c.1564G>A

1 paper

NM_016203.4

p.A527V

c.1580C>T

1 paper

NM_016203.4

p.E528Q

c.1582G>C

1 paper

NM_016203.4

p.T519A

c.1555A>G

1 paper

NM_016203.4

p.E518V

c.1553A>T

1 paper

NM_016203.4

p.E528_V529Splc

c.1584+8G>A

2 papers

NM_016203.4

p.N512I

c.1535A>T

4 papers

NM_016203.4

p.E506D

c.1518A>T

4 papers

NM_016203.4

p.E506D

c.1518A>C

13 papers

NM_016203.4

p.E506Q

c.1516G>C