Varaico: Literature-Extracted Genetic Variants

Gene:MED12
Variant:p.L36P
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MED12

NM_005120.3:p.L36P

Associated Papers

Genomic Profiling of Cardiac Angiosarcoma Reveals Novel Targetable KDR Variants, Recurrent MED12 Mutations, and a High Burden of Germline POT1 Alterations.

Odintsov I et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

Droplet-digital PCR reveals frequent mutations in TERT promoter region in breast fibroadenomas and phyllodes tumours, irrespective of the presence of MED12 mutations.

Otsuji K et al.

British Journal of Cancer, 2021

Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.

Williams EA et al.

Acta Neuropathologica Communications, 2020

33087175 (PubMed )
Supplement: 40478_2020_1040_MOESM1_ESM.xlsx › Sheet1

Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.

Pandey A et al.

Nature Communications, 2020

32839463 (PubMed )
Supplement: 41467_2020_17880_MOESM8_ESM.xlsx › GBC_Cell_LIne_Mutations

Activation of hedgehog signaling associates with early disease progression in chronic lymphocytic leukemia.

Ghia EM et al.

Blood, 2019

Somatic mutations in benign breast disease tissue and risk of subsequent invasive breast cancer.

Rohan TE et al.

British Journal of Cancer, 2018

29872146 (PubMed )
Supplement: 41416_2018_89_MOESM2_ESM.xls › Table_2a

MED12 mutations and NOTCH signalling in chronic lymphocytic leukaemia.

Wu B et al.

British Journal of Haematology, 2017

Multiple clinical characteristics separate MED12-mutation-positive and -negative uterine leiomyomas.

Heinonen HR et al.

Scientific Reports, 2017

28432313 (PubMed )
Supplement: 41598_2017_1199_MOESM1_ESM.pdf

Genetic landscape of T- and NK-cell post-transplant lymphoproliferative disorders.

Margolskee E et al.

Oncotarget, 2016

MED12 is frequently mutated in breast phyllodes tumours: a study of 112 cases.

Ng CC et al.

Journal of Clinical Pathology, 2015

Distribution of MED12 mutations in fibroadenomas and phyllodes tumors of the breast--implications for tumor biology and pathological diagnosis.

Pfarr N et al.

Genes, Chromosomes & Cancer, 2015

Novel MED12 gene somatic mutations in women from the Southern United States with symptomatic uterine fibroids.

Halder SK et al.

Molecular Genetics and Genomics : Mgg, 2015

Exome sequencing identifies highly recurrent MED12 somatic mutations in breast fibroadenoma.

Lim WK et al.

Nature Genetics, 2014

MED12 exon 2 mutations in uterine and extrauterine smooth muscle tumors.

Schwetye KE et al.

Human Pathology, 2014

Variants in exon 2 of MED12 gene causes uterine leiomyoma's through over-expression of MMP-9 of ECM pathway.

Pandey V et al.

Mutation Research, 0

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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."