Varaico: Literature-Extracted Genetic Variants

Gene:MED12
Variant:p.G44S
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MED12

NM_005120.3:p.G44S

Associated Papers

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

UTERINE FIBROIDS.

Bulun SE et al.

Physiological Reviews, 2025

The Mediator Complex: A Regulatory Hub for Transcriptional Activity of Nuclear Receptors.

Zhou L et al.

Cells, 2025

Generative prediction of causal gene sets responsible for complex traits.

Kuznets-Speck B et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40504147 (PubMed )
Supplement: pnas.2415071122.sd01.xlsx › Metadata_Table

Activation of FGFR genes by genetic and epigenetic alterations in uterine leiomyomas.

Jokinen V et al.

Bjc Reports, 2025

40016412 (PubMed )
Supplement: 44276_2025_127_MOESM3_ESM.xlsx › Sheet1

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

Chuang TD et al.

International Journal of Molecular Sciences, 2025

Detection of exon2-MED12 mutations in uterine leiomyomas from Syrian patients.

Albitar L et al.

Scientific Reports, 2025

Somatic MED12 Mutations in Myometrial Cells.

Li Y et al.

Cells, 2024

39273004 (PubMed )
Supplement: cells-13-01432-s001.zip › cells-3133120-supplementary.pdf

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

Mining cancer genomes for change-of-metabolic-function mutations.

Tu KJ et al.

Communications Biology, 2023

37950065 (PubMed )
Supplement: 42003_2023_5475_MOESM2_ESM.pdf

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

Distinct p53 phosphorylation patterns in chronic lymphocytic leukemia patients are reflected in the activation of circumjacent pathways upon DNA damage.

Mancikova V et al.

Molecular Oncology, 2023

36334078 (PubMed )
Supplement: MOL2-17-82-s003.pdf

Prevalence and clinical significance of co-existing mutations in MED12 and FH in uterine fibroids of Australian women.

Jamaluddin MFB et al.

Frontiers in Reproductive Health, 2023

Further characterization of tryptophan metabolism and its dysregulation in fibroids.

Chuang TD et al.

F&s Science, 2022

Analysis of recurrent molecular alterations in phyllodes tumour of breast: insights into prognosis and pathogenesis.

Tsang JY et al.

Pathology, 2022

Uterine PEComatosis With TSC1 Mutation in a Patient With Tuberous Sclerosis: Case Report and Literature Review.

Schechter SA et al.

International Journal of Gynecological Pathology : Official Journal of the International Society of Gynecological Pathologists, 2022

Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Gounder MM et al.

Nature Communications, 2022

35705558 (PubMed )
Supplement: 41467_2022_30496_MOESM2_ESM.xls › variants_table_final_for_supple

Histo-molecular characterization of pancreatic cancer with microsatellite instability: intra-tumor heterogeneity, B2M inactivation, and the importance of metastatic sites.

Luchini C et al.

Virchows Archiv : an International Journal of Pathology, 2022

Distinct genomic landscape of Chinese pediatric acute myeloid leukemia impacts clinical risk classification.

Liu T et al.

Nature Communications, 2022

35347147 (PubMed )
Supplement: 41467_2022_29336_MOESM8_ESM.xlsx › Sheet1

Stromal MED12 exon 2 mutations in complex fibroadenomas of the breast.

da Silva EM et al.

Journal of Clinical Pathology, 2022

Concomitant Kinase-Dead BRAF and Oncogenic KRAS Lead to an Aggressive Biologic Behavior and Tumor Lysis Syndrome: A Case Report.

Holland R et al.

Frontiers in Oncology, 2022

Whole exome sequencing of high-risk neuroblastoma identifies novel non-synonymous variants.

Przybyła W et al.

Plos One, 2022

MED12 exon 2 and TERT promoter mutations in primary and recurrent breast fibroepithelial lesions.

Hu Y et al.

Pathology International, 2021

Long Noncoding RNA MIAT Modulates the Extracellular Matrix Deposition in Leiomyomas by Sponging MiR-29 Family.

Chuang TD et al.

Endocrinology, 2021

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

Srivastava S et al.

Journal of Cellular Physiology, 2021

MED12-Related (Neuro)Developmental Disorders: A Question of Causality.

Plassche SV et al.

Genes, 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

Ectopic expression of CYP24A1 circular RNA hsa_circ_0060927 in uterine leiomyomas.

Fazeli E et al.

Journal of Clinical Laboratory Analysis, 2020

Altered chromatin landscape and enhancer engagement underlie transcriptional dysregulation in MED12 mutant uterine leiomyomas.

Moyo MB et al.

Nature Communications, 2020

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

Uterine adenomyosis is an oligoclonal disorder associated with KRAS mutations.

Inoue S et al.

Nature Communications, 2019

31857578 (PubMed )
Supplement: 41467_2019_13708_MOESM11_ESM.xlsx › SD8_SNV_LM

Genomic characterisation of breast fibroepithelial lesions in an international cohort.

Md Nasir ND et al.

The Journal of Pathology, 2019

Primary renal well-differentiated neuroendocrine tumour (carcinoid): next-generation sequencing study of 11 cases.

Pivovarcikova K et al.

Histopathology, 2019

A Three-dimensional Ex Vivo Viability Assay Reveals a Strong Correlation Between Response to Targeted Inhibitors and Mutation Status in Melanoma Lymph Node Metastases.

Flørenes VA et al.

Translational Oncology, 2019

31096111 (PubMed )
Supplement: mmc1.xlsx › Blad1

The genomic mutation spectrums of breast fibroadenomas in Chinese population by whole exome sequencing analysis.

Xie SN et al.

Cancer Medicine, 2019

Proteomic Analysis Identifies Tenascin-C Expression Is Upregulated in Uterine Fibroids.

Jamaluddin MFB et al.

Reproductive Sciences (thousand Oaks, Calif.), 2019

Analysis of error profiles in deep next-generation sequencing data.

Ma X et al.

Genome Biology, 2019

30867008 (PubMed )
Supplement: 13059_2019_1659_MOESM1_ESM.xlsx › S3_b

Recurrent MED12 exon 2 mutations in benign breast fibroepithelial lesions in adolescents and young adults.

Pareja F et al.

Journal of Clinical Pathology, 2019

MED12 somatic mutations encompassing exon 2 associated with benign breast fibroadenomas and not breast carcinoma in Indian women.

Darooei M et al.

Journal of Cellular Biochemistry, 2019

Tracking tumour evolution in glioma through liquid biopsies of cerebrospinal fluid.

Miller AM et al.

Nature, 2019

30675060 (PubMed )
Supplement: NIHMS1516901-supplement-Sup_Table_5.xlsx › Matched_pair_analysis

LncRNA SRA1 may play a role in the uterine leiomyoma tumor growth regarding the MED12 mutation pattern.

Akbari M et al.

International Journal of Women's Health, 2019

Mediator Kinase Disruption in MED12-Mutant Uterine Fibroids From Hispanic Women of South Texas.

Park MJ et al.

The Journal of Clinical Endocrinology and Metabolism, 2018

Molecular insights into paediatric breast fibroepithelial tumours.

Tay TKY et al.

Histopathology, 2018

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 is recurrently mutated in Middle Eastern colorectal cancer.

Siraj AK et al.

Gut, 2018

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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."