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

1–12 of 93 variants

25 papers

NM_017431.4

p.R225Q

c.674G>A

17 papers

NM_017431.4

p.R225W

c.673C>T

6 papers

NM_017431.4

p.P71A

c.211C>G

5 papers

NM_017431.4

p.Q260R

c.779A>G

4 papers

NM_017431.4

p.V318I

c.952G>A

4 papers

NM_017431.4

p.D485N

c.1453G>A

3 papers

NM_017431.4

p.R340W

c.1018C>T

2 papers

NM_017431.4

p.H7H

c.21C>T

2 papers

NM_017431.4

p.P104L

c.311C>T

2 papers

NM_017431.4

p.R186C

c.556C>T

2 papers

NM_017431.4

p.S200N

c.599G>A

2 papers

NM_017431.4

p.H332R

c.995A>G