Varaico: Literature-Extracted Genetic Variants

Gene:PPRC1
Variant:p.E284delFs

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
1 paper
NM_015062.5
p.E284delFs
c.852delA
Surrounding Variants
1 paper
NM_015062.5
p.E284fs
c.850_851fs
1 paper
NM_015062.5
p.A287P
c.859G>C
1 paper
NM_015062.5
p.A279V
c.836C>T
1 paper
NM_015062.5
p.A279delFs
c.835delG
1 paper
NM_015062.5
p.D273delFs
c.818delA
1 paper
NM_015062.5
p.G298S
c.892G>A
1 paper
NM_015062.5
p.G298D
c.893G>A
1 paper
NM_015062.5
p.Q258*
c.772C>T
2 papers
NM_015062.5
p.R310Q
c.929G>A
1 paper
NM_015062.5
p.L323L
c.969G>A
1 paper
NM_015062.5
p.R233C
c.697C>T
1 paper
NM_015062.5
p.R231T
c.692G>C
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