Varaico: Literature-Extracted Genetic Variants

Gene:PPRC1

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
1–12 of 141 variants
3 papers
NM_015062.5
p.P940insFs
c.2819dupC
3 papers
NM_015062.5
p.P941fs
c.2821_2822fs
3 papers
NM_015062.5
p.R1288Q
c.3863G>A
3 papers
NM_015062.5
p.R1428H
c.4283G>A
2 papers
NM_015062.5
p.R310Q
c.929G>A
2 papers
NM_015062.5
p.K465R
c.1394A>G
2 papers
NM_015062.5
p.R760_Q764ins1
c.2279_2290dup12
2 papers
NM_015062.5
p.L789P
c.2366T>C
2 papers
NM_015062.5
p.L815L
c.2445T>G
2 papers
NM_015062.5
p.V822I
c.2464G>A
2 papers
NM_015062.5
p.P834R
c.2501C>G
2 papers
NM_015062.5
p.V909A
c.2726T>C
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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."