Varaico: Literature-Extracted Genetic Variants

Gene:PSPC1
Variant:p.V462_H463Splc

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
2 papers
NM_001354909.2
p.V462_H463Splc
c.1386+2T>C
Surrounding Variants
4 papers
NM_001354909.2
p.N450S
c.1349A>G
4 papers
NM_001354909.2
p.M437V
c.1309A>G
1 paper
NM_001354909.2
p.I432V
c.1294A>G
1 paper
NM_001354909.2
p.A413V
c.1238C>T
1 paper
NM_001354909.2
p.D406Splc
c.1217-8T>C
1 paper
NM_001354909.2
p.P471Q
c.1412C>A
1 paper
NM_001354909.2
p.S473A
c.1417T>G
1 paper
NM_001354909.2
p.S473C
c.1418C>G
1 paper
NM_001354909.2
p.G476C
c.1426G>T
1 paper
NM_001354909.2
p.S485C
c.1454C>G
2 papers
NM_001354909.2
p.M492V
c.1474A>G
1 paper
NM_001354909.2
p.M492insFs
c.1475dupT
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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."