Varaico: Literature-Extracted Genetic Variants

Gene:PPARGC1A
Variant:p.G482S

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
266 papers
NM_013261.5
p.G482S
c.1444G>A
Surrounding Variants
2 papers
NM_013261.5
p.D479D
c.1437C>T
1 paper
NM_013261.5
p.R485K
c.1454G>A
1 paper
NM_013261.5
p.S487N
c.1460G>A
2 papers
NM_013261.5
p.F474F
c.1422T>C
1 paper
NM_013261.5
p.F494L
c.1480T>C
1 paper
NM_013261.5
p.F494L
c.1482C>G
1 paper
NM_013261.5
p.P469R
c.1406C>G
1 paper
NM_013261.5
p.F494L
c.1482C>A
1 paper
NM_013261.5
p.F466F
c.1398C>T
1 paper
NM_013261.5
p.H465H
c.1395C>T
1 paper
NM_013261.5
p.M499V
c.1495A>G
1 paper
NM_013261.5
p.G504E
c.1511G>A
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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."