Varaico: Literature-Extracted Genetic Variants

Gene:TULP3
Variant:p.R382W
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TULP3

NM_003324.5:p.R382W

Associated Papers

A defined tubby domain β-barrel surface region of TULP3 mediates ciliary trafficking of diverse cargoes.

Palicharla VR et al.

Molecular Biology of the Cell, 2025

Molecular and structural perspectives on protein trafficking to the primary cilium membrane.

Reddy Palicharla V et al.

Biochemical Society Transactions, 2024

Rare variants in TULP3 abolish the suppressive effect on sonic hedgehog signaling and contribute to human neural tube defects.

Kuang L et al.

Genes & Diseases, 2022

A pathogenic variant of TULP3 causes renal and hepatic fibrocystic disease.

Jafari Khamirani H et al.

Frontiers in Genetics, 2022

Unearthing TULP3 Mutation as a Rare Cause of Cryptogenic Cirrhosis: A Case Report and Review of the Literature.

Shastri A et al.

Journal of Clinical and Experimental Hepatology, 0

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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."