Varaico: Literature-Extracted Genetic Variants

Gene:POFUT1
Variant:p.S356F
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POFUT1

NM_015352.2:p.S356F

Associated Papers

Novel deletion of the POFUT1 gene associated with multiple seborrheic keratosis Dowling-Degos disease.

Chen Y et al.

The Journal of Dermatology, 2021

Functional Characterization of POFUT1 Variants Associated with Colorectal Cancer.

Deschuyter M et al.

Cancers, 2020

Atypical presentation of Dowling-Degos disease with novel and recurrent mutations in POFUT1.

Zhong W et al.

Clinical and Experimental Dermatology, 2018

Structure of human POFUT1, its requirement in ligand-independent oncogenic Notch signaling, and functional effects of Dowling-Degos mutations.

McMillan BJ et al.

Glycobiology, 2017

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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."