Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TUFT1

Variant:p.T241_E242Splc

Back to variants list

TUFT1

NM_020127.3:p.T241_E242Splc

hg38:chr1:151574909 A>G

Associated Papers

Disruption of TUFT1, a Desmosome-Associated Protein, Causes Skin Fragility, Woolly Hair, and Palmoplantar Keratoderma.

Verkerk AJMH et al.

The Journal of Investigative Dermatology, 2024

37716648 (PubMed )

Select a paper to view details

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."