Varaico: Literature-Extracted Genetic Variants

Gene:TUBB1
Variant:p.V349I
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TUBB1

NM_030773.4:p.V349I

Associated Papers

Genetic and functional analysis of TUBB1 variants in congenital hypothyroidism.

Wang F et al.

Endokrynologia Polska, 2025

SIGMA leverages protein structural information to predict the pathogenicity of missense variants.

Zhao H et al.

Cell Reports Methods, 2024

38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Rare genetic variability in human drug target genes modulates drug response and can guide precision medicine.

Zhou Y et al.

Science Advances, 2021

34516913 (PubMed )
Supplement: sciadv.abi6856_tables_s1_to_s8.zip › sciadv.abi6856_Table_S4.xlsx › Sheet1
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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."