Varaico: Literature-Extracted Genetic Variants

Gene:PPRC1
Variant:p.P940delFs

PPRC1

152 papers

RefSeq Summary

The protein encoded by this gene is similar to PPAR-gamma coactivator 1 (PPARGC1/PGC-1), a protein that can activate mitochondrial biogenesis in part through a direct interaction with nuclear respirat...

Pfam Domains

RRM_1aa 1545–1608UCSCRNA recognition motif

Gene Aliases

HGNC Name

PPARG related coactivator 1

HGNC Alias Symbols

KIAA0595; MGC74642

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
2 papers
NM_015062.5
p.P940delFs
c.2819delC
Surrounding Variants
3 papers
NM_015062.5
p.P940insFs
c.2819dupC
1 paper
NM_015062.5
p.P940fs
c.2818_2819fs
3 papers
NM_015062.5
p.P941fs
c.2821_2822fs
2 papers
NM_015062.5
p.P941fs
c.2821_2822fs
1 paper
NM_015062.5
p.G948D
c.2843G>A
1 paper
NM_015062.5
p.P924S
c.2770C>T
1 paper
NM_015062.5
p.T958I
c.2873C>T
1 paper
NM_015062.5
p.V961L
c.2881G>C
1 paper
NM_015062.5
p.V961L
c.2881G>T
2 papers
NM_015062.5
p.V909A
c.2726T>C
1 paper
NM_015062.5
p.P908L
c.2723C>T
1 paper
NM_015062.5
p.G884S
c.2650G>A
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