Varaico: Literature-Extracted Genetic Variants

PRKAG3

107 papers

RefSeq Summary

The protein encoded by this gene is a regulatory subunit of the AMP-activated protein kinase (AMPK). AMPK is a heterotrimer consisting of an alpha catalytic subunit, and non-catalytic beta and gamma s...

Pfam Domains

CBSaa 273–333UCSCCBS domain

CBSaa 350–407UCSCCBS domain

CBSaa 424–479UCSCCBS domain

Gene Aliases

HGNC Name

protein kinase AMP-activated non-catalytic subunit gamma 3

HGNC Previous Name

protein kinase, AMP-activated, gamma 3 non-catalytic subunit

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_017431.4

p.P104L

c.311C>T

Surrounding Variants

1 paper

NM_017431.4

p.P104T

c.310C>A

1 paper

NM_017431.4

p.A105V

c.314C>T

1 paper

NM_017431.4

p.D103G

c.308A>G

1 paper

NM_017431.4

p.V107fs

c.319_320fs

1 paper

NM_017431.4

p.T109I

c.326C>T

1 paper

NM_017431.4

p.G113V

c.338G>T

1 paper

NM_017431.4

p.P118L

c.353C>T

1 paper

NM_017431.4

p.C121R

c.361T>C

1 paper

NM_017431.4

p.T122fs

c.364_365fs

1 paper

NM_017431.4

p.T122insFs

c.364dupA

1 paper

NM_017431.4

p.T122T

c.366A>T

1 paper

NM_017431.4

p.G77D

c.230G>A