Varaico: Literature-Extracted Genetic Variants

Gene:PPRC1
Variant:p.L154L

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.L154L
c.460C>T
Surrounding Variants
1 paper
NM_015062.5
p.L155_P158delFs
c.464_474del11
1 paper
NM_015062.5
p.L143F
c.427C>T
1 paper
NM_015062.5
p.R116_S118del0
c.346_354del9
1 paper
NM_015062.5
p.H165Y
c.493C>T
1 paper
NM_015062.5
p.R172W
c.514C>T
1 paper
NM_015062.5
p.R172P
c.515G>C
1 paper
NM_015062.5
p.R177H
c.530G>A
1 paper
NM_015062.5
p.D184G
c.551A>G
1 paper
NM_015062.5
p.L202F
c.604C>T
1 paper
NM_015062.5
p.T217insFs
c.650_651insT
1 paper
NM_015062.5
p.P223L
c.668C>T
1 paper
NM_015062.5
p.R231T
c.692G>C
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