Varaico: Literature-Extracted Genetic Variants

Gene:PPARGC1A
Variant:p.L453F

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.L453F
c.1357C>T
Surrounding Variants
1 paper
NM_013261.5
p.R459Q
c.1376G>A
1 paper
NM_013261.5
p.H465H
c.1395C>T
1 paper
NM_013261.5
p.F466F
c.1398C>T
1 paper
NM_013261.5
p.P469R
c.1406C>G
4 papers
NM_013261.5
p.L434L
c.1302G>A
1 paper
NM_013261.5
p.Q431H
c.1293G>T
1 paper
NM_013261.5
p.Q431H
c.1293G>C
2 papers
NM_013261.5
p.F474F
c.1422T>C
1 paper
NM_013261.5
p.S429delFs
c.1285delA
2 papers
NM_013261.5
p.D479D
c.1437C>T
266 papers
NM_013261.5
p.G482S
c.1444G>A
1 paper
NM_013261.5
p.Q422H
c.1266G>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."