Varaico: Literature-Extracted Genetic Variants

Gene:TUBB1
Variant:p.R307H
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TUBB1

NM_030773.4:p.R307H

Associated Papers

Population-specific putative causal variants shape quantitative traits.

Koyama S et al.

Nature Genetics, 2024

39363016 (PubMed )
Supplement: 41588_2024_1913_MOESM3_ESM.xlsx › ST8_Missense_PPI___0.1

A circle of life: platelet and megakaryocyte cytoskeleton dynamics in health and disease.

Liu H et al.

Open Biology, 2024

Clinical and Molecular Characteristics of Megakaryocytes in Myelodysplastic Syndrome.

Luo F et al.

Global Medical Genetics, 2024

Quantitative and structural changes of blood platelet cytoskeleton proteins in multiple sclerosis (MS).

Dziedzic A et al.

Journal of Autoimmunity, 2024

Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.

Huang YC et al.

Journal of Personalized Medicine, 2023

37763159 (PubMed )
Supplement: jpm-13-01392-s001.zip › Supplementary_Table_S3.xlsx › Variants

Expanding the genetic spectrum of TUBB1-related thrombocytopenia.

Palma-Barqueros V et al.

Blood Advances, 2021

Identification of a pathogenic TUBB1 variant in a Chinese family with congenital macrothrombocytopenia through whole genome sequencing.

Hou Y et al.

Platelets, 2021

Identification of novel TUBB1 variants in patients with macrothrombocytopenia.

Çalışkaner ZO et al.

Turkish Journal of Medical Sciences, 2021

Analysis of polymorphisms in the colchicine binding site of tubulin in colchicine-resistant familial Mediterranean fever patients.

Akbaba TH et al.

Molecular Biology Reports, 2020

Platelet dysfunction caused by a novel thromboxane A2 receptor mutation and congenital thrombocytopenia in a case of mild bleeding.

Bugert P et al.

Platelets, 2020

A Glanzmann thrombasthenia family associated with a TUBB1-related macrothrombocytopenia.

Guillet B et al.

Journal of Thrombosis and Haemostasis : Jth, 2019

TUBB1 variants and human platelet traits.

Burley K et al.

Platelets, 2018

A new mutation in TUBB1 associated with thrombocytopenia confirms that C-terminal part of β1-tubulin plays a role in microtubule assembly.

Fiore M et al.

Clinical Genetics, 2017

Identification of EGFLAM, SPATC1L and RNASE13 as novel susceptibility loci for aortic aneurysm in Japanese individuals by exome-wide association studies.

Yamada Y et al.

International Journal of Molecular Medicine, 2017

Pharmacogenetic analysis of advanced non-small-cell lung cancer patients treated with first-line paclitaxel and carboplatin chemotherapy.

Park HS et al.

Pharmacogenetics and Genomics, 2016

β-1 tubulin R307H SNP alters microtubule dynamics and affects severity of a hereditary thrombocytopenia.

Basciano PA et al.

Journal of Thrombosis and Haemostasis : Jth, 2015

Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits.

Auer PL et al.

Nature Genetics, 2014

The beta 1 tubulin R307H single nucleotide polymorphism is associated with treatment failures in immune thrombocytopenia (ITP).

Basciano PA et al.

British Journal of Haematology, 2013

Hematologic β-tubulin VI isoform exhibits genetic variability that influences paclitaxel toxicity.

Leandro-García LJ et al.

Cancer Research, 2012

Mutation of the beta1-tubulin gene associated with congenital macrothrombocytopenia affecting microtubule assembly.

Kunishima S et al.

Blood, 2009

Structural impact of pathogenic SNPs on β-tubulin using molecular dynamics study.

Mansoor Hussain UH et al.

Journal of Biomolecular Structure & Dynamics, 0

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