Varaico: Literature-Extracted Genetic Variants

Gene:PSPC1
Variant:p.R520C

PSPC1

65 papers

RefSeq Summary

This gene encodes a nucleolar protein that localizes to punctate subnuclear structures that occur close to splicing speckles, known as paraspeckles. These paraspeckles are composed of RNA-protein stru...

Pfam Domains

RRM_1aa 84–148UCSCRNA recognition motif
RRM_1aa 158–224UCSCRNA recognition motif
NOPSaa 229–280UCSCNOPS (NUC059) domain

Gene Aliases

HGNC Name

paraspeckle component 1

HGNC Alias Symbols

PSP1; FLJ10955

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001354909.2
p.R520C
c.1558C>T
Surrounding Variants
1 paper
NM_001354909.2
p.R521C
c.1561C>T
1 paper
NM_001354909.2
p.P517L
c.1550C>T
1 paper
NM_001354909.2
p.Y523F
c.1568A>T
1 paper
NM_001354909.2
p.Q510H
c.1530A>T
1 paper
NM_001354909.2
p.Q510H
c.1530A>C
1 paper
NM_001354909.2
p.G504C
c.1510G>T
1 paper
NM_001354909.2
p.S499C
c.1495A>T
1 paper
NM_001354909.2
p.G494G
c.1482T>C
1 paper
NM_001354909.2
p.M492insFs
c.1475dupT
2 papers
NM_001354909.2
p.M492fs
c.1474_1475fs
2 papers
NM_001354909.2
p.M492V
c.1474A>G
1 paper
NM_001354909.2
p.S485C
c.1454C>G
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