Varaico: Literature-Extracted Genetic Variants

Gene:PSPC1

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
1–12 of 63 variants
4 papers
NM_001354909.2
p.M437V
c.1309A>G
4 papers
NM_001354909.2
p.N450S
c.1349A>G
2 papers
NM_001354909.2
p.R20C
c.58C>T
2 papers
NM_001354909.2
p.G43W
c.127G>T
2 papers
NM_001354909.2
p.I65V
c.193A>G
2 papers
NM_001354909.2
p.V462_H463Splc
c.1386+2T>C
2 papers
NM_001354909.2
p.M492V
c.1474A>G
2 papers
NM_001354909.2
p.M492fs
c.1474_1475fs
1 paper
NM_001354909.2
p.N6I
c.17A>T
1 paper
NM_001354909.2
p.A17_R18del1
c.50_52delGGG
1 paper
NM_001354909.2
p.E23A
c.68A>C
1 paper
NM_001354909.2
p.G43R
c.127G>C
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."