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.A360V

c.1079C>T

Surrounding Variants

1 paper

NM_017431.4

p.A366T

c.1096G>A

1 paper

NM_017431.4

p.Q349*

c.1045C>T

1 paper

NM_017431.4

p.P341insFs

c.1023dupC

1 paper

NM_017431.4

p.S342fs

c.1024_1025fs

1 paper

NM_017431.4

p.R340Q

c.1019G>A

3 papers

NM_017431.4

p.R340W

c.1018C>T

1 paper

NM_017431.4

p.S336P

c.1006T>C

1 paper

NM_017431.4

p.E388K

c.1162G>A

2 papers

NM_017431.4

p.H332R

c.995A>G

4 papers

NM_017431.4

p.V318I

c.952G>A

1 paper

NM_017431.4

p.P313P

c.939G>A

1 paper

NM_017431.4

p.R307C

c.919C>T