Varaico: Literature-Extracted Genetic Variants

Gene:PPRC1
Variant:p.V493L

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.V493L
c.1477G>C
Surrounding Variants
1 paper
NM_015062.5
p.V493L
c.1477G>T
1 paper
NM_015062.5
p.V489A
c.1466T>C
1 paper
NM_015062.5
p.S481*
c.1442C>A
1 paper
NM_015062.5
p.S481*
c.1442C>G
1 paper
NM_015062.5
p.C471F
c.1412G>T
1 paper
NM_015062.5
p.C471R
c.1411T>C
2 papers
NM_015062.5
p.K465R
c.1394A>G
1 paper
NM_015062.5
p.S453delFs
c.1358_1359delCC
1 paper
NM_015062.5
p.Q443Q
c.1329G>A
1 paper
NM_015062.5
p.G553V
c.1658G>T
1 paper
NM_015062.5
p.L427delFs
c.1279delT
1 paper
NM_015062.5
p.I565V
c.1693A>G
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