Varaico: Literature-Extracted Genetic Variants

Gene:EHMT2
Variant:p.A3A
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EHMT2

NM_006709.5:p.A3A

Associated Papers

The SETD2 L1609P mutation found in leukemia disrupts methyltransferase activity and reduces histone H3K36 trimethylation.

Michail C et al.

The Journal of Biological Chemistry, 2026

The superpowers of imprinting control regions.

Montibus B et al.

Genome Research, 2026

Modulation of Aerobic Glycolysis Genes During the Progression of Retinitis Pigmentosa.

Adani E et al.

Investigative Ophthalmology & Visual Science, 2026

41569027 (PubMed )
Supplement: iovs-67-1-49_s003.xlsx › DEGs

Comparative genomic and clinicopathological analysis uncovers contrasting molecular profiles of canine and human thyroid carcinomas.

Das S et al.

Communications Biology, 2025

41353477 (PubMed )
Supplement: 42003_2025_9225_MOESM3_ESM.xlsx › Supplementary_Data_8

Genome-wide discovery of multiple sclerosis genetic risk variant allelic regulatory activity.

Granitto M et al.

G3 (bethesda, Md.), 2025

40838804 (PubMed )
Supplement: jkaf192_supplementary_data.zip › Supplementary_Table_10_G3-2025-406100.xlsx › allelic_silencers

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.

Bisarad P et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41282771 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_3

Small-molecule targeting BCAT1-mediated BCAA metabolism inhibits the activation of SHOC2-RAS-ERK to induce apoptosis of Triple-negative breast cancer cells.

Huang L et al.

Journal of Advanced Research, 2025

39490614 (PubMed )
Supplement: mmc3.xlsx › ctrl_shRNA_VS_BCAT1_shRNA2

Saturation mapping of MUTYH variant effects using DNA repair reporters.

Hemker SL et al.

Biorxiv : the Preprint Server for Biology, 2025

40093110 (PubMed )
Supplement: media-3.xlsx › SuppTable_2_all_scores

Loss-of-function mutations in the dystonia gene THAP1 impair proteasome function by inhibiting PSMB5 expression.

Ramage DE et al.

Nature Communications, 2025

39929834 (PubMed )
Supplement: 41467_2025_56782_MOESM4_ESM.xlsx › THAP1_Deep_Mutational_Scan

Control of striatal circuit development by the chromatin regulator Zswim6.

Choi K et al.

Science Advances, 2025

Epigenetics in Neurodegenerative Diseases.

van Zundert B et al.

Sub-cellular Biochemistry, 2025

Aberrant histone modifications in pediatric brain tumors.

Hamanishi ET et al.

Frontiers in Oncology, 2025

Dysregulation of heterochromatin caused by genomic structural variants may be central to autism spectrum disorder.

Garvin MR et al.

Frontiers in Molecular Neuroscience, 2025

Extensive binding of uncharacterized human transcription factors to genomic dark matter.

Razavi R et al.

Biorxiv : the Preprint Server for Biology, 2024

39605320 (PubMed )
Supplement: media-5.xlsx › Sheet1

KDM5C is a sex-biased brake against germline gene expression programs in somatic lineages.

Bonefas KM et al.

Biorxiv : the Preprint Server for Biology, 2024

Navigating the complexity of Polycomb repression: Enzymatic cores and regulatory modules.

Tamburri S et al.

Molecular Cell, 2024

Newly developed oral bioavailable EHMT2 inhibitor as a potential epigenetic therapy for Prader-Willi syndrome.

Wang SE et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2024

Somatic mutations associate with clonal expansion of CD8+ T cells.

Lundgren S et al.

Science Advances, 2024

38848368 (PubMed )
Supplement: sciadv.adj0787_tables_s1_to_s11.zip › adj0787_Tables_S1_to_S11.xlsx › S5

Lineage-tracing hematopoietic stem cell origins in vivo to efficiently make human HLF+ HOXA+ hematopoietic progenitors from pluripotent stem cells.

Fowler JL et al.

Developmental Cell, 2024

38569552 (PubMed )
Supplement: mmc6.pdf

Waardenburg syndrome type 2 with a de novo variant of the SOX10 gene: a case report.

Li Y et al.

Bmc Medical Genomics, 2024

38659011 (PubMed )
Supplement: 12920_2024_1877_MOESM2_ESM.xlsx › H12056928648

MLe-KCNQ2: An Artificial Intelligence Model for the Prognosis of Missense KCNQ2 Gene Variants.

Saez-Matia A et al.

International Journal of Molecular Sciences, 2024

38474157 (PubMed )
Supplement: ijms-25-02910-s001.zip › Supp_Data_4_All_Possible_Predictions_no_codon.xlsx › Sheet1

Genetic Association and Differential RNA Expression of Histone (De)Acetylation-Related Genes in Pemphigus Foliaceus-A Possible Epigenetic Effect in the Autoimmune Response.

Sulzbach Denardin M et al.

Life (basel, Switzerland), 2023

38255677 (PubMed )
Supplement: life-14-00060-s001.zip › life-2771125-supplementary.xlsx › Table_S1

Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid.

Sangiorgi E et al.

Genes, 2023

38002998 (PubMed )
Supplement: genes-14-02055-s001.zip › supplementaryTable1.xlsx › PassengerMutations

Writers and readers of H3K9me2 form distinct protein networks during the cell cycle that include candidates for H3K9 mimicry.

Pollin G et al.

Bioscience Reports, 2023

37782747 (PubMed )
Supplement: BSR-2023-1093_supp1.zip › BSR-2023-1093_supps3.xlsx › _2_Filtered_Nuclear

CELF2 Sustains a Proliferating/OLIG2+ Glioblastoma Cell Phenotype via the Epigenetic Repression of SOX3.

Turchi L et al.

Cancers, 2023

37894405 (PubMed )
Supplement: cancers-15-05038-s001.zip › cancers-2483116-supplementary.pdf

Distinct functions of EHMT1 and EHMT2 in cancer chemotherapy and immunotherapy.

Kang Z et al.

Biorxiv : the Preprint Server for Biology, 2023

G9a inactivation in progenitor cells with Isl1-Cre with reduced recombinase activity models aspects of Dandy-Walker complex.

Chi L et al.

Biology Open, 2023

Serine signaling governs metabolic homeostasis and health.

He L et al.

Trends in Endocrinology and Metabolism: Tem, 2023

Systematic identification of factors involved in the silencing of germline genes in mouse embryonic stem cells.

Al Adhami H et al.

Nucleic Acids Research, 2023

Comprehensive characterization of the embryonic factor LEUTX.

Gawriyski L et al.

Iscience, 2023

36876139 (PubMed )
Supplement: mmc2.xlsx › ProteomicsResults

Unchanged PCNA and DNMT1 dynamics during replication in DNA ligase I-deficient cells but abnormal chromatin levels of non-replicative histone H1.

Bhandari SK et al.

Scientific Reports, 2023

The Role of Histone Modification in DNA Replication-Coupled Nucleosome Assembly and Cancer.

Zhang Y et al.

International Journal of Molecular Sciences, 2023

Multitrait genome-wide analyses identify new susceptibility loci and candidate drugs to primary sclerosing cholangitis.

Han Y et al.

Nature Communications, 2023

36828809 (PubMed )
Supplement: 41467_2023_36678_MOESM10_ESM.xlsx › Table_S7

Multiregional Sequencing Analysis Reveals Extensive Genetic Heterogeneity in Gastric Tumors from Latinos.

Toal TW et al.

Cancer Research Communications, 2022

36970058 (PubMed )
Supplement: crc-22-0149-s01.xlsx › LCC_Pan_Cancer_Panel_V1

The Histone Demethylase HR Suppresses Breast Cancer Development through Enhanced CELF2 Tumor Suppressor Activity.

Shen Y et al.

Cancers, 2022

PCGF6 controls neuroectoderm specification of human pluripotent stem cells by activating SOX2 expression.

Lan X et al.

Nature Communications, 2022

35933409 (PubMed )
Supplement: 41467_2022_32295_MOESM2_ESM.pdf

SETDB1 acts as a topological accessory to Cohesin via an H3K9me3-independent, genomic shunt for regulating cell fates.

Warrier T et al.

Nucleic Acids Research, 2022

PHF13 epigenetically activates TGFβ driven epithelial to mesenchymal transition.

Sun Y et al.

Cell Death & Disease, 2022

Soma-to-germline transformation in chromatin-linked neurodevelopmental disorders?

Bonefas KM et al.

The Febs Journal, 2022

CHARGE syndrome-associated proteins FAM172A and CHD7 influence male sex determination and differentiation through transcriptional and alternative splicing mechanisms.

Bélanger C et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2022

Exome sequencing of Japanese schizophrenia multiplex families supports the involvement of calcium ion channels.

Toyama M et al.

Plos One, 2022

35536790 (PubMed )
Supplement: pone.0268321.s003.xlsx › Sheet1

Cross-Talk Between Histone Methyltransferases and Demethylases Regulate REST Transcription During Neurogenesis.

Swaminathan J et al.

Frontiers in Oncology, 2022

The Emerging Role of Epigenetics in Therapeutic Targeting of Cardiomyopathies.

Pagiatakis C et al.

International Journal of Molecular Sciences, 2021

Chromatin Alterations in Neurological Disorders and Strategies of (Epi)Genome Rescue.

Janowski M et al.

Pharmaceuticals (basel, Switzerland), 2021

Control of Breast Cancer Pathogenesis by Histone Methylation and the Hairless Histone Demethylase.

Trager MH et al.

Endocrinology, 2021

Genetic mechanisms of HLA-I loss and immune escape in diffuse large B cell lymphoma.

Fangazio M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

34050029 (PubMed )
Supplement: pnas.2104504118.sd02.xlsx › Table_S2
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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."