Varaico: Literature-Extracted Genetic Variants

Gene:PPARGC1A
Variant:p.H384Y

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.H384Y
c.1150C>T
Surrounding Variants
1 paper
NM_013261.5
p.D385V
c.1154A>T
1 paper
NM_013261.5
p.R379L
c.1136G>T
1 paper
NM_013261.5
p.R379Q
c.1136G>A
1 paper
NM_013261.5
p.R379W
c.1135C>T
1 paper
NM_013261.5
p.R375R
c.1125G>T
2 papers
NM_013261.5
p.T394T
c.1182A>G
1 paper
NM_013261.5
p.I396I
c.1188A>C
1 paper
NM_013261.5
p.G367R
c.1099G>A
1 paper
NM_013261.5
p.Q402Q
c.1206G>A
1 paper
NM_013261.5
p.T365S
c.1094C>G
1 paper
NM_013261.5
p.L410I
c.1228C>A
1 paper
NM_013261.5
p.E411D
c.1233A>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."