Varaico: Literature-Extracted Genetic Variants

Gene:PQBP1
Variant:p.N255D
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PQBP1

NM_001032382.2:p.N255D

Associated Papers

[Frameshift mutations in the PQBP1 gene prevent its interaction with the splicing factor U5-15kD].

Mizuguchi M

Seikagaku. the Journal of Japanese Biochemical Society, 2015

Mutations in the PQBP1 gene prevent its interaction with the spliceosomal protein U5-15 kD.

Mizuguchi M et al.

Nature Communications, 2014

[Structural study of polyglutamine tract-binding protein 1].

Mizuguchi M et al.

Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 2013

Polyglutamine tract-binding protein-1 binds to U5-15kD via a continuous 23-residue segment of the C-terminal domain.

Takahashi M et al.

Biochimica Et Biophysica Acta, 2010

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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."