Varaico: Literature-Extracted Genetic Variants

Gene:PPARGC1A
Variant:p.R332K

PPARGC1A

678 papers

RefSeq Summary

The protein encoded by this gene is a transcriptional coactivator that regulates the genes involved in energy metabolism. This protein interacts with PPARgamma, which permits the interaction of this p...

Pfam Domains

RRM_1aa 679–742UCSCRNA recognition motif

Gene Aliases

HGNC Name

PPARG coactivator 1 alpha

HGNC Previous Symbol

PPARGC1

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_013261.5
p.R332K
c.995G>A
Surrounding Variants
1 paper
NM_013261.5
p.P331S
c.991C>T
1 paper
NM_013261.5
p.G341G
c.1023C>A
1 paper
NM_013261.5
p.T322insFs
c.965_966insC
1 paper
NM_013261.5
p.K321R
c.962A>G
1 paper
NM_013261.5
p.K347R
c.1040A>G
1 paper
NM_013261.5
p.K315_L316insC
c.943_947ins3
1 paper
NM_013261.5
p.F310Y
c.929T>A
1 paper
NM_013261.5
p.Y355N
c.1063T>A
1 paper
NM_013261.5
p.Y355*
c.1065T>G
1 paper
NM_013261.5
p.Y355*
c.1065T>A
1 paper
NM_013261.5
p.Q306K
c.916C>A
1 paper
NM_013261.5
p.N305K
c.915C>G
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."