Varaico: Literature-Extracted Genetic Variants

Gene:PRKAG3
Variant:p.H7H

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.H7H
c.21C>T
Surrounding Variants
1 paper
NM_017431.4
p.G4R
c.10G>A
1 paper
NM_017431.4
p.T12_P13insFs
c.36_37insA
1 paper
NM_017431.4
p.S14S
c.42C>T
1 paper
NM_017431.4
p.S21T
c.61T>A
1 paper
NM_017431.4
p.S27G
c.79A>G
1 paper
NM_017431.4
p.E32Q
c.94G>C
1 paper
NM_017431.4
p.E32fs
c.94_95fs
1 paper
NM_017431.4
p.W37R
c.109T>C
1 paper
NM_017431.4
p.W37R
c.109T>A
1 paper
NM_017431.4
p.K52E
c.154A>G
1 paper
NM_017431.4
p.R53G
c.157C>G
1 paper
NM_017431.4
p.A57A
c.171C>T
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