Varaico: Literature-Extracted Genetic Variants

Gene:PPARGC1A
Variant:p.Q422H

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.Q422H
c.1266G>C
Surrounding Variants
1 paper
NM_013261.5
p.Q422H
c.1266G>T
1 paper
NM_013261.5
p.W419C
c.1257G>T
1 paper
NM_013261.5
p.W419C
c.1257G>C
1 paper
NM_013261.5
p.D418delFs
c.1252delC
1 paper
NM_013261.5
p.S417F
c.1250C>T
1 paper
NM_013261.5
p.S429delFs
c.1285delA
1 paper
NM_013261.5
p.V415V
c.1245C>G
1 paper
NM_013261.5
p.Q431H
c.1293G>T
1 paper
NM_013261.5
p.Q431H
c.1293G>C
1 paper
NM_013261.5
p.E411D
c.1233A>T
1 paper
NM_013261.5
p.E411D
c.1233A>C
4 papers
NM_013261.5
p.L434L
c.1302G>A
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