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

4 papers

NM_016203.4

p.Q503R

c.1508A>G

Surrounding Variants

13 papers

NM_016203.4

p.E506Q

c.1516G>C

14 papers

NM_016203.4

p.E506K

c.1516G>A

1 paper

NM_016203.4

p.H500Y

c.1498C>T

4 papers

NM_016203.4

p.E506D

c.1518A>T

4 papers

NM_016203.4

p.E506D

c.1518A>C

1 paper

NM_016203.4

p.T495T

c.1485C>A

2 papers

NM_016203.4

p.N512I

c.1535A>T

4 papers

NM_016203.4

p.I492N

c.1475T>A

1 paper

NM_016203.4

p.D491delFs

c.1471delC

64 papers

NM_016203.4

p.N488I

c.1463A>T

1 paper

NM_016203.4

p.E518V

c.1553A>T

1 paper

NM_016203.4

p.T519A

c.1555A>G