Varaico: Literature-Extracted Genetic Variants

Gene:PPARGC1A
Variant:p.S98S

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
4 papers
NM_013261.5
p.S98S
c.294T>C
Surrounding Variants
1 paper
NM_013261.5
p.P100insFs
c.298_299ins4
1 paper
NM_013261.5
p.L96V
c.286C>G
1 paper
NM_013261.5
p.T95A
c.283A>G
1 paper
NM_013261.5
p.D102D
c.306T>C
1 paper
NM_013261.5
p.D104G
c.311A>G
1 paper
NM_013261.5
p.L92V
c.274C>G
1 paper
NM_013261.5
p.G105_L106insFs
c.315_316insC
1 paper
NM_013261.5
p.P107T
c.319C>A
1 paper
NM_013261.5
p.L89fs
c.265_266fs
1 paper
NM_013261.5
p.L88*
c.263T>A
1 paper
NM_013261.5
p.F109S
c.326T>C
1 paper
NM_013261.5
p.A111V
c.332C>T
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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."