Varaico: Literature-Extracted Genetic Variants

Gene:SETD2
Variant:p.M1845T
Back to variants list

SETD2

NM_001349370.3:p.M1845T

Associated Papers

Comprehensive genetic profiling and molecularly guided treatment for patients with primary CNS tumors.

Kuehn JC et al.

Npj Precision Oncology, 2024

39143272 (PubMed )
Supplement: 41698_2024_674_MOESM2_ESM.xlsx › Supplementary_Data_3

SETD2 Haploinsufficiency Enhances Germinal Center-Associated AICDA Somatic Hypermutation to Drive B-cell Lymphomagenesis.

Leung W et al.

Cancer Discovery, 2022

The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma.

Hubert JN et al.

Cancers, 2021

Next-Generation Sequencing Improves Diagnosis, Prognosis and Clinical Management of Myeloid Neoplasms.

Carbonell D et al.

Cancers, 2019

31540291 (PubMed )
Supplement: cancers-11-01364-s001.zip › cancers-588721-SI.pdf

SETD2 and histone H3 lysine 36 methylation deficiency in advanced systemic mastocytosis.

Martinelli G et al.

Leukemia, 2018

28663576 (PubMed )
Supplement: leu2017183x1.docx

Genomic disruption of the histone methyltransferase SETD2 in chronic lymphocytic leukaemia.

Parker H et al.

Leukemia, 2016

Exome sequencing identifies a novel mutation in the MYH6 gene in a family with early-onset sinus node dysfunction, ventricular arrhythmias, and cardiac arrest.

Lam L et al.

Heartrhythm Case Reports, 2015

28491533 (PubMed )
Supplement: mmc1.docx

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 762.297
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."