Varaico: Literature-Extracted Genetic Variants

Gene:PPARGC1A
Variant:p.S622L

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.S622L
c.1865C>T
Surrounding Variants
2 papers
NM_013261.5
p.S616F
c.1847C>T
1 paper
NM_013261.5
p.N615S
c.1844A>G
1 paper
NM_013261.5
p.R630H
c.1889G>A
1 paper
NM_013261.5
p.R631Q
c.1892G>A
31 papers
NM_013261.5
p.T612M
c.1835C>T
2 papers
NM_013261.5
p.R611H
c.1832G>A
1 paper
NM_013261.5
p.E638_E639insA
c.1912_1916ins3
1 paper
NM_013261.5
p.H642D
c.1924C>G
1 paper
NM_013261.5
p.R647S
c.1941G>T
1 paper
NM_013261.5
p.R647S
c.1941G>C
1 paper
NM_013261.5
p.Y650F
c.1949A>T
1 paper
NM_013261.5
p.R651C
c.1951C>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."