Varaico: Literature-Extracted Genetic Variants

Gene:PPARGC1A
Variant:p.L55H

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.L55H
c.164T>A
Surrounding Variants
1 paper
NM_013261.5
p.K56M
c.167A>T
1 paper
NM_013261.5
p.G53D
c.158G>A
2 papers
NM_013261.5
p.S59G
c.175A>G
1 paper
NM_013261.5
p.F51S
c.152T>C
1 paper
NM_013261.5
p.S59R
c.177T>A
1 paper
NM_013261.5
p.D60E
c.180C>G
1 paper
NM_013261.5
p.D49D
c.147C>T
1 paper
NM_013261.5
p.Q61R
c.182A>G
1 paper
NM_013261.5
p.D47N
c.139G>A
1 paper
NM_013261.5
p.E63E
c.189A>G
1 paper
NM_013261.5
p.D45N
c.133G>A
2 papers
NM_013261.5
p.D42V
c.125A>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."