Varaico: Literature-Extracted Genetic Variants

Gene:TUFT1
Variant:p.T175M
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TUFT1

NM_020127.3:p.T175M

Associated Papers

In silico screening of non-synonymous SNPs in human TUFT1 gene.

Ajith A et al.

Journal, Genetic Engineering & Biotechnology, 2023

Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects.

Jackson A et al.

The British Journal of Dermatology, 2023

Multi-Omics Characterization of the Spontaneous Mesenchymal-Epithelial Transition in the PMC42 Breast Cancer Cell Lines.

Bhatia S et al.

Journal of Clinical Medicine, 2019

31430931 (PubMed )
Supplement: jcm-08-01253-s001.zip › Supplementary_Info › Suppl_Tables.xlsx › S5.ET_SNP_deleterious

TUFT1, a novel candidate gene for metatarsophalangeal osteoarthritis, plays a role in chondrogenesis on a calcium-related pathway.

Sliz E et al.

Plos One, 2017

Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Witkiewicz AK et al.

Nature Communications, 2015

25855536 (PubMed )
Supplement: ncomms7744-s2.xlsx › MUTATIONS_ALL_CASES
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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."