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

1 paper

NM_017431.4

p.E265V

c.794A>T

Surrounding Variants

1 paper

NM_017431.4

p.H267R

c.800A>G

1 paper

NM_017431.4

p.I269T

c.806T>C

5 papers

NM_017431.4

p.Q260R

c.779A>G

1 paper

NM_017431.4

p.Q260E

c.778C>G

1 paper

NM_017431.4

p.Y254H

c.760T>C

1 paper

NM_017431.4

p.V249M

c.745G>A

1 paper

NM_017431.4

p.D245del1

c.733_734delGTC

1 paper

NM_017431.4

p.G279A

c.836G>C

1 paper

NM_017431.4

p.R304W

c.910C>T

1 paper

NM_017431.4

p.H306R

c.917A>G

1 paper

NM_017431.4

p.R307C

c.919C>T

1 paper

NM_017431.4

p.R307G

c.919C>G