Varaico: Literature-Extracted Genetic Variants

Gene:PSPC1
Variant:p.A17_R18del1

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.A17_R18del1
c.50_52delGGG
Surrounding Variants
2 papers
NM_001354909.2
p.R20C
c.58C>T
1 paper
NM_001354909.2
p.E23A
c.68A>C
1 paper
NM_001354909.2
p.N6I
c.17A>T
2 papers
NM_001354909.2
p.G43W
c.127G>T
1 paper
NM_001354909.2
p.G43R
c.127G>C
1 paper
NM_001354909.2
p.G43R
c.127G>A
1 paper
NM_001354909.2
p.P47fs
c.139_140fs
1 paper
NM_001354909.2
p.P50_P52del0
c.150_155del6
1 paper
NM_001354909.2
p.P50_P52del3
c.148_155del9
2 papers
NM_001354909.2
p.I65V
c.193A>G
1 paper
NM_001354909.2
p.V86M
c.256G>A
1 paper
NM_001354909.2
p.E95fs
c.283_284fs
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