Varaico: Literature-Extracted Genetic Variants

Gene:PPRC1
Variant:p.V345G

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.V345G
c.1034T>G
Surrounding Variants
1 paper
NM_015062.5
p.V345M
c.1033G>A
1 paper
NM_015062.5
p.L346_T354del9
c.1036_1061del27
1 paper
NM_015062.5
p.L346Q
c.1037T>A
1 paper
NM_015062.5
p.V349M
c.1045G>A
1 paper
NM_015062.5
p.G350R
c.1048G>A
1 paper
NM_015062.5
p.G350R
c.1048G>C
1 paper
NM_015062.5
p.Q351fs
c.1051_1052fs
1 paper
NM_015062.5
p.L323L
c.969G>A
2 papers
NM_015062.5
p.R310Q
c.929G>A
1 paper
NM_015062.5
p.G298D
c.893G>A
1 paper
NM_015062.5
p.G298S
c.892G>A
1 paper
NM_015062.5
p.A287P
c.859G>C
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