Varaico: Literature-Extracted Genetic Variants

Gene:PPRC1
Variant:p.L815L

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.L815L
c.2445T>G
Surrounding Variants
1 paper
NM_015062.5
p.C818C
c.2454C>T
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.L789P
c.2366T>C
1 paper
NM_015062.5
p.A856V
c.2567C>T
1 paper
NM_015062.5
p.V862M
c.2584G>A
1 paper
NM_015062.5
p.R763C
c.2287C>T
1 paper
NM_015062.5
p.R760K
c.2279G>A
2 papers
NM_015062.5
p.R760_Q764ins1
c.2279_2290dup12
1 paper
NM_015062.5
p.R760insFs
c.2278_2279ins7
1 paper
NM_015062.5
p.G884S
c.2650G>A
1 paper
NM_015062.5
p.H744Y
c.2230C>T
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