Varaico: Literature-Extracted Genetic Variants

Gene:PPARGC1A
Variant:p.E18V

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
6 papers
NM_013261.5
p.E18V
c.53A>T
Surrounding Variants
1 paper
NM_013261.5
p.I17V
c.49A>G
1 paper
NM_013261.5
p.D16G
c.47A>G
2 papers
NM_013261.5
p.S15R
c.45T>G
1 paper
NM_013261.5
p.C6S
c.17G>C
1 paper
NM_013261.5
p.C6S
c.16T>A
1 paper
NM_013261.5
p.W3delFs
c.7delA
1 paper
NM_013261.5
p.M1T
c.2T>C
1 paper
NM_013261.5
p.E18_C19Splc
c.55-27T>A
1 paper
NM_013261.5
p.Q27*
c.79C>T
3 papers
NM_013261.5
p.Q27E
c.79C>G
1 paper
NM_013261.5
p.L29L
c.87T>C
1 paper
NM_013261.5
p.P31P
c.93A>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."