Varaico: Literature-Extracted Genetic Variants

Gene:POFUT1
Variant:p.M262T
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POFUT1

NM_015352.2:p.M262T

Associated Papers

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

NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Reinhold WC et al.

Plos One, 2014

25032700 (PubMed )
Supplement: pone.0101670.s002.xlsx › Sup_Table_2
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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."