Varaico: Literature-Extracted Genetic Variants

Gene:ITPR1
Variant:p.G2547A
Back to variants list

ITPR1

NM_001099952.4:p.G2547A

Associated Papers

Disease-associated mutations in inositol 1,4,5-trisphosphate receptor subunits impair channel function.

Terry LE et al.

The Journal of Biological Chemistry, 2020

Ca2+ signaling and spinocerebellar ataxia.

Hisatsune C et al.

Biochimica Et Biophysica Acta. Molecular Cell Research, 2018

Inositol 1,4,5-trisphosphate Receptor Mutations associated with Human Disease.

Terry LE et al.

Messenger (los Angeles, Calif. : Print), 2018

Mutational analysis of ITPR1 in a Taiwanese cohort with cerebellar ataxias.

Hsiao CT et al.

Plos One, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."