Varaico: Literature-Extracted Genetic Variants

Gene:SETD2
Variant:p.S1624C
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SETD2

NM_014159.7:p.S1624C

Associated Papers

Monomorphic epitheliotropic intestinal T-cell lymphoma comprises morphologic and genomic heterogeneity impacting outcome.

Veloza L et al.

Haematologica, 2023

35708139 (PubMed )
Supplement: 2022_281226_VELOZA_SUPPL.pdf

Inferring the Effects of Protein Variants on Protein-Protein Interactions with Interpretable Transformer Representations.

Liu Z et al.

Research (washington, D.c.), 2023

SETD2 alterations and histone H3K36 trimethylation in phyllodes tumor of breast.

Tsang JY et al.

Breast Cancer Research and Treatment, 2021

Enteropathy-associated T cell lymphoma subtypes are characterized by loss of function of SETD2.

Moffitt AB et al.

The Journal of Experimental Medicine, 2017

28424246 (PubMed )
Supplement: JEM_20160894_TableS1-S10.xlsx › Table_S1._Variants

Type II enteropathy-associated T-cell lymphoma features a unique genomic profile with highly recurrent SETD2 alterations.

Roberti A et al.

Nature Communications, 2016

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms.

D'Gama AM et al.

Neuron, 2015

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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."