Varaico: Literature-Extracted Genetic Variants

Gene:PPRC1
Variant:p.H1462Y

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.H1462Y
c.4384C>T
Surrounding Variants
1 paper
NM_015062.5
p.S1459fs
c.4375_4376fs
1 paper
NM_015062.5
p.S1459delFs
c.4375delT
2 papers
NM_015062.5
p.S1429F
c.4286C>T
3 papers
NM_015062.5
p.R1428H
c.4283G>A
1 paper
NM_015062.5
p.R1423Q
c.4268G>A
1 paper
NM_015062.5
p.S1413R
c.4239C>A
1 paper
NM_015062.5
p.S1413R
c.4239C>G
1 paper
NM_015062.5
p.S1413R
c.4237A>C
1 paper
NM_015062.5
p.D1386H
c.4156G>C
1 paper
NM_015062.5
p.S1377P
c.4129T>C
1 paper
NM_015062.5
p.T1358_S1359del2
c.4072_4076del6
1 paper
NM_015062.5
p.P1353L
c.4058C>T
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