Varaico: Literature-Extracted Genetic Variants

Gene:KMT2C
Variant:p.R973G
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KMT2C

NM_170606.3:p.R973G

Associated Papers

Integrated multi-omics analysis reveals the involvement of the gut-brain axis in children with autism.

Zhong H et al.

Frontiers in Microbiology, 2026

41716284 (PubMed )
Supplement: Supplementary_file_2.xlsx › Table_S1

CHEK1 variant is a risk factor for premature ovarian insufficiency by mis- regulating metabolism and inflammation-related genes.

Guo J et al.

Human Genomics, 2025

40533835 (PubMed )
Supplement: 40246_2025_774_MOESM4_ESM.xlsx › Sheet1

Deciphering Brain Metastasis Stem Cell Properties From Colorectal Cancer Highlights Specific Stemness Signature and Shared Molecular Features.

Desette A et al.

Cellular and Molecular Gastroenterology and Hepatology, 2023

Comparative Panel Sequencing of DNA Variants in cf-, ev- and tumorDNA for Pancreatic Ductal Adenocarcinoma Patients.

Waldenmaier M et al.

Cancers, 2022

35205822 (PubMed )
Supplement: cancers-14-01074-s001.zip › cancers-1571843_supplementary.pdf

Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Li Y et al.

Frontiers in Oncology, 2022

36387164 (PubMed )
Supplement: Table_1.xlsx › sheet1

KMT2C mutation is a diagnostic molecular marker for primary thyroid osteosarcoma: A case report and literature review.

Wang X et al.

Frontiers in Medicine, 2022

Liquid Biopsy in Gastric Cancer: Analysis of Somatic Cancer Tissue Mutations in Plasma Cell-Free DNA for Predicting Disease State and Patient Survival.

Varkalaite G et al.

Clinical and Translational Gastroenterology, 2021

34644276 (PubMed )
Supplement: ct9-12-e00403-s007.pdf

Mutations in Epigenetic Regulation Genes in Gastric Cancer.

Nemtsova MV et al.

Cancers, 2021

First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.

Fu W et al.

Bmc Medical Genomics, 2021

34001105 (PubMed )
Supplement: 12920_2021_979_MOESM2_ESM.xlsx › data

A chemical genetic screen identifies Aurora kinases as a therapeutic target in EGFR T790M negative, gefitinib-resistant head and neck squamous cell carcinoma (HNSCC).

Low JL et al.

Ebiomedicine, 2021

33529999 (PubMed )
Supplement: mmc2.xlsx › Table_S2

Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.

Miller EM et al.

Bmc Medical Genomics, 2020

33256706 (PubMed )
Supplement: 12920_2020_824_MOESM5_ESM.xlsx › Sheet1

Clinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: a case report.

López-Cortés A et al.

Bmc Medical Genomics, 2020

32807182 (PubMed )
Supplement: 12920_2020_764_MOESM4_ESM.xlsx › Table_S3

Whole-exome analysis in osteosarcoma to identify a personalized therapy.

Chiappetta C et al.

Oncotarget, 2017

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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."