Varaico: Literature-Extracted Genetic Variants

Gene:TUBA1A
Variant:p.E254K
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TUBA1A

NM_006009.4:p.E254K

Associated Papers

Missense variants in TUBA4A cause myo-tubulinopathies.

Johari M et al.

Brain : a Journal of Neurology, 2026

Missense variants in TUBA4A cause myo-tubulinopathies.

Johari M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Understanding molecular mechanisms and predicting phenotypic effects of pathogenic tubulin mutations.

Attard TJ et al.

Plos Computational Biology, 2022

36206299 (PubMed )
Supplement: pcbi.1010611.s002.xlsx › gnomAD

Mutant Proteomics of Lung Adenocarcinomas Harboring Different EGFR Mutations.

Nishimura T et al.

Frontiers in Oncology, 2020

32983988 (PubMed )
Supplement: Data_Sheet_2.xlsx › AZ001
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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."