Varaico: Literature-Extracted Genetic Variants

Gene:MED12
Variant:p.Q43P
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MED12

NM_005120.3:p.Q43P

Associated Papers

Genomic determinants of response and resistance to pirtobrutinib in relapsed/refractory chronic lymphocytic leukemia.

Brown JR et al.

Blood, 2026

41055698 (PubMed )
Supplement: BLOOD_BLD-2024-027009-mmc4.xlsx › Sheet_1

Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.

Nakata E et al.

Cancer Science, 2026

41128349 (PubMed )
Supplement: CAS-117-156-s003.xlsx › Sheet1

Distinct pathways for genetic and epigenetic predisposition in familial and bilateral Wilms tumor.

Wegert J et al.

Genome Medicine, 2025

40340749 (PubMed )
Supplement: 13073_2025_1482_MOESM1_ESM.xlsx › Table_S2

Differential Expression of Small Non-Coding RNAs in Uterine Leiomyomas.

Chuang TD et al.

International Journal of Molecular Sciences, 2025

The interplay of mutagenesis and ecDNA shapes urothelial cancer evolution.

Nguyen DD et al.

Nature, 2024

39385020 (PubMed )
Supplement: 41586_2024_7955_MOESM11_ESM.xlsx › Figure_3e

The Effect of Race/Ethnicity and MED12 Mutation on the Expression of Long Non-Coding RNAs in Uterine Leiomyoma and Myometrium.

Chuang TD et al.

International Journal of Molecular Sciences, 2024

Differential Expression of MED12-Associated Coding RNA Transcripts in Uterine Leiomyomas.

Chuang TD et al.

International Journal of Molecular Sciences, 2023

MED12 mutations in uterine leiomyomas: prediction of volume reduction by gonadotropin-releasing hormone agonists.

Nagai K et al.

American Journal of Obstetrics and Gynecology, 2023

Further characterization of tryptophan metabolism and its dysregulation in fibroids.

Chuang TD et al.

F&s Science, 2022

A full-proteome, interaction-specific characterization of mutational hotspots across human cancers.

Chen S et al.

Genome Research, 2022

34963661 (PubMed )
Supplement: supp_gr.275437.121_Supplementary_Table_1.xlsx › Non-recurrent_variants

Insights into the regulatory role and clinical relevance of mediator subunit, MED12, in human diseases.

Srivastava S et al.

Journal of Cellular Physiology, 2021

Serial genomic analysis of endometrium supports the existence of histologically indistinct endometrial cancer precursors.

Aguilar M et al.

The Journal of Pathology, 2021

Vitamin D as an effective treatment in human uterine leiomyomas independent of mediator complex subunit 12 mutation.

Corachán A et al.

Fertility and Sterility, 2021

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

Structure and noncanonical Cdk8 activation mechanism within an Argonaute-containing Mediator kinase module.

Li YC et al.

Science Advances, 2021

DNA Methylation, Deamination, and Translesion Synthesis Combine to Generate Footprint Mutations in Cancer Driver Genes in B-Cell Derived Lymphomas and Other Cancers.

Rogozin IB et al.

Frontiers in Genetics, 2021

34093666 (PubMed )
Supplement: Data_Sheet_2.xls › Sheet1

A precisely positioned MED12 activation helix stimulates CDK8 kinase activity.

Klatt F et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

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

Ghia EM et al.

Blood, 2019

Clinical, pathologic, cytogenetic, and molecular profiling in self-identified black women with uterine leiomyomata.

Hayden MA et al.

Cancer Genetics, 2018

Oncogenic exon 2 mutations in Mediator subunit MED12 disrupt allosteric activation of cyclin C-CDK8/19.

Park MJ et al.

The Journal of Biological Chemistry, 2018

Clinical impact of the subclonal architecture and mutational complexity in chronic lymphocytic leukemia.

Nadeu F et al.

Leukemia, 2018

28924241 (PubMed )
Supplement: leu2017291x4.xlsx › Table_S7

Proteomic Profiling of Human Uterine Fibroids Reveals Upregulation of the Extracellular Matrix Protein Periostin.

Jamaluddin MFB et al.

Endocrinology, 2018

MED12, TERT promoter and RBM15 mutations in primary and recurrent phyllodes tumours.

Garcia-Dios DA et al.

British Journal of Cancer, 2018

The evolutionary landscape of chronic lymphocytic leukemia treated with ibrutinib targeted therapy.

Landau DA et al.

Nature Communications, 2017

29259203 (PubMed )
Supplement: 41467_2017_2329_MOESM4_ESM.xlsx › Supplementary_Data_2

Prevalence and clinical significance of mediator complex subunit 12 mutations in 362 Han Chinese samples with uterine leiomyoma.

Wu J et al.

Oncology Letters, 2017

Characterization of MED12, HMGA2, and FH alterations reveals molecular variability in uterine smooth muscle tumors.

Mäkinen N et al.

Molecular Cancer, 2017

28592321 (PubMed )
Supplement: 12943_2017_672_MOESM5_ESM.xlsx › Table_S3.

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

A Computational Protein Phenotype Prediction Approach to Analyze the Deleterious Mutations of Human MED12 Gene.

Banaganapalli B et al.

Journal of Cellular Biochemistry, 2016

MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas.

Kämpjärvi K et al.

British Journal of Cancer, 2016

27187686 (PubMed )
Supplement: bjc2016130x3.pdf

Frequency of MED12 mutations in phyllodes tumors: Inverse correlation with histologic grade.

Yoon N et al.

Genes, Chromosomes & Cancer, 2016

Mutational analysis of MED12 exon 2 in a spectrum of fibroepithelial tumours of the breast: implications for pathogenesis and histogenesis.

Lien HC et al.

Histopathology, 2016

MED12 mutation in patients with hysteromyoma.

Ye J et al.

Oncology Letters, 2015

Frequent MED12 mutations in phyllodes tumours of the breast.

Yoshida M et al.

British Journal of 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

High-resolution melting analysis of MED12 mutations in uterine leiomyomas in Chinese patients.

Wang H et al.

Genetic Testing and Molecular Biomarkers, 2015

Somatic MED12 mutations are associated with poor prognosis markers in chronic lymphocytic leukemia.

Kämpjärvi K et al.

Oncotarget, 2015

25595892 (PubMed )
Supplement: oncotarget-06-1884-s002.xlsx › Sheet1

Mediator kinase module and human tumorigenesis.

Clark AD et al.

Critical Reviews in Biochemistry and Molecular Biology, 2015

MED12 and HMGA2 mutations: two independent genetic events in uterine leiomyoma and leiomyosarcoma.

Bertsch E et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2014

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

Lim WK et al.

Nature Genetics, 2014

Uterine leiomyoma-linked MED12 mutations disrupt mediator-associated CDK activity.

Turunen M et al.

Cell Reports, 2014

Characterization of uterine leiomyomas by whole-genome sequencing.

Mehine M et al.

The New England Journal of Medicine, 2013

23738515 (PubMed )
Supplement: nejmoa1302736_appendix.pdf

Prevalence of MED12 mutations in uterine and extrauterine smooth muscle tumours.

Matsubara A et al.

Histopathology, 2013

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

MED12 mutations in uterine fibroids--their relationship to cytogenetic subgroups.

Markowski DN et al.

International Journal of Cancer, 2012

Whole exome sequencing in a random sample of North American women with leiomyomas identifies MED12 mutations in majority of uterine leiomyomas.

McGuire MM et al.

Plos One, 2012

MED12 exon 2 mutations are common in uterine leiomyomas from South African patients.

Mäkinen N et al.

Oncotarget, 2011

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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."