Varaico: Literature-Extracted Genetic Variants

Gene:PPARGC1A
Variant:p.S539F

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
1 paper
NM_013261.5
p.S539F
c.1616C>T
Surrounding Variants
1 paper
NM_013261.5
p.S530S
c.1590C>T
1 paper
NM_013261.5
p.T528T
c.1584G>A
1 paper
NM_013261.5
p.Y523*
c.1569C>G
1 paper
NM_013261.5
p.Y523*
c.1569C>A
1 paper
NM_013261.5
p.D519G
c.1556A>G
1 paper
NM_013261.5
p.Q560R
c.1679A>G
1 paper
NM_013261.5
p.Q563Q
c.1689A>G
1 paper
NM_013261.5
p.R564K
c.1691G>A
2 papers
NM_013261.5
p.M565T
c.1694T>C
1 paper
NM_013261.5
p.R566C
c.1696C>T
1 paper
NM_013261.5
p.R566R
c.1698C>T
1 paper
NM_013261.5
p.R568C
c.1702C>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."