Varaico: Literature-Extracted Genetic Variants

Gene:KMT2D
Variant:p.S2251L
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KMT2D

NM_003482.4:p.S2251L

Associated Papers

Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.

Kuligina ES et al.

Cancers, 2025

41374957 (PubMed )
Supplement: cancers-17-03756-s001.zip › Table_S4b.xlsx › All_candidate_mutations

A Case of Non-Small Cell Lung Cancer with Mutually Exclusive EGFR and KRAS Mutations.

Tushir A et al.

Current Issues in Molecular Biology, 2025

Giant juvenile fibroadenomas with and without prominent pseudoangiomatous stromal hyperplasia (PASH)-like change: clinicopathological and molecular characteristics.

Jorns JM et al.

Histopathology, 2023

Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development.

Liu Y et al.

Molecular Cancer, 2023

37543594 (PubMed )
Supplement: 12943_2023_1828_MOESM2_ESM.xlsx › supplementaryTable_1B

Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.

Adamson AW et al.

Journal of Ovarian Research, 2023

37460928 (PubMed )
Supplement: 13048_2023_1234_MOESM2_ESM.xlsx › Table_S10__

The functional landscape of the human phosphoproteome.

Ochoa D et al.

Nature Biotechnology, 2020

31819260 (PubMed )
Supplement: EMS84831-supplement-Table_S5.xlsx › clinvar_data

Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Pritchard AL et al.

Plos One, 2018

29641532 (PubMed )
Supplement: pone.0194098.s003.xlsx › UK10K_OtherCG

The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance.

Aref-Eshghi E et al.

Epigenetics, 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."