Varaico: Literature-Extracted Genetic Variants

Gene:PPARGC1A

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
1–12 of 243 variants
266 papers
NM_013261.5
p.G482S
c.1444G>A
31 papers
NM_013261.5
p.T612M
c.1835C>T
6 papers
NM_013261.5
p.E18V
c.53A>T
5 papers
NM_013261.5
p.S74L
c.221C>T
4 papers
NM_013261.5
p.S98S
c.294T>C
4 papers
NM_013261.5
p.L434L
c.1302G>A
3 papers
NM_013261.5
p.Q27E
c.79C>G
3 papers
NM_013261.5
p.C161Y
c.482G>A
2 papers
NM_013261.5
p.S15R
c.45T>G
2 papers
NM_013261.5
p.D42V
c.125A>T
2 papers
NM_013261.5
p.S59G
c.175A>G
2 papers
NM_013261.5
p.E78_K79Splc
c.234+52C>A
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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."