Varaico: Literature-Extracted Genetic Variants

Gene:TUBB2A
Variant:p.T178M
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TUBB2A

NM_001069.3:p.T178M

Associated Papers

Clinical characteristics and radiological features of tubulinopathy: A single-center retrospective study in Japan.

Ikegawa T et al.

Brain & Development, 2025

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes

Kinetically Stabilizing Mutations in Beta Tubulins Create Isotype-Specific Brain Malformations.

Park K et al.

Frontiers in Cell and Developmental Biology, 2021

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype

Tubulin mutations in neurodevelopmental disorders as a tool to decipher microtubule function.

Fourel G et al.

Febs Letters, 2020

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut
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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."