Varaico: Literature-Extracted Genetic Variants

Gene:MED12
Variant:p.V1223L
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MED12

NM_005120.3:p.V1223L

Associated Papers

Reannotation of cancer mutations based on expressed RNA transcripts reveals functional non-coding mutations in melanoma.

Pepe D et al.

American Journal of Human Genetics, 2025

40359938 (PubMed )
Supplement: mmc2.xlsx › All

MED12 Loss-of-Function Variants as a Cause of Congenital Diaphragmatic Hernia in Females With Hardikar Syndrome and Nonspecific Intellectual Disability.

Kao EC et al.

American Journal of Medical Genetics. Part A, 2025

2-kupl: mapping-free variant detection from DNA-seq data of matched samples.

Wang Y et al.

Bmc Bioinformatics, 2021

34090332 (PubMed )
Supplement: 12859_2021_4185_MOESM3_ESM.xlsx › Table_S2

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

Srivastava S et al.

Journal of Cellular Physiology, 2021

Extreme value theory as a framework for understanding mutation frequency distribution in cancer genomes.

Tokutomi N et al.

Plos One, 2021

34424899 (PubMed )
Supplement: pone.0243595.s003.pdf

Somatic Evolution in Non-neoplastic IBD-Affected Colon.

Olafsson S et al.

Cell, 2020

32697969 (PubMed )
Supplement: mmc4.xlsx › A__TCGA_hotspots

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

Banaganapalli B et al.

Journal of Cellular Biochemistry, 2016

Somatic MED12 mutations in prostate cancer and uterine leiomyomas promote tumorigenesis through distinct mechanisms.

Kämpjärvi K et al.

The Prostate, 2016

Re: Stoehr et al. Lack of evidence for frequent MED12 p.L1224F mutation in prostate tumours from Caucasian patients. J Pathol 2013; 230: 453-456.

Barbieri CE et al.

The Journal of Pathology, 2013

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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."