Varaico: Literature-Extracted Genetic Variants

Gene:PIM1
Variant:p.E124Q
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PIM1

NM_002648.4:p.E124Q

Associated Papers

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S6

Germline Exome Sequencing for Men with Testicular Germ Cell Tumor Reveals Coding Defects in Chromosomal Segregation and Protein-targeting Genes.

Pyle LC et al.

European Urology, 2024

Altered cytoplasmic and nuclear ADP-ribosylation levels analyzed with an improved ADP-ribose binder are a prognostic factor in renal cell carcinoma.

Schraml P et al.

The Journal of Pathology. Clinical Research, 2023

36999983 (PubMed )
Supplement: CJP2-9-273-s001.xlsx › Tumor_27

The Genetic Landscape of Ocular Adnexa MALT Lymphoma Reveals Frequent Aberrations in NFAT and MEF2B Signaling Pathways.

Magistri M et al.

Cancer Research Communications, 2021

35528192 (PubMed )
Supplement: crc-21-0022-s05.xlsx › Fig3_pathway_variants

Analysis and Interpretation of the Impact of Missense Variants in Cancer.

Petrosino M et al.

International Journal of Molecular Sciences, 2021

34063805 (PubMed )
Supplement: ijms-22-05416-s001.zip › new_supplementary_file1.xlsx › new_supplementary_file1

Molecular profiling of soft-tissue sarcomas with FoundationOne® Heme identifies potential targets for sarcoma therapy: a single-centre experience.

Scheipl S et al.

Therapeutic Advances in Medical Oncology, 2021

34367342 (PubMed )
Supplement: sj-xlsx-1-tam-10.1177_17588359211029125.xlsx › FMI_Archer

Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.

Sprissler R et al.

Cancers, 2020

32570879 (PubMed )
Supplement: cancers-12-01618-s001.zip › cancers-817200-Supplementary_Materials3 › Supplementary_table_S1.xlsx › Oncogenes

IGLV3-21*01 is an inherited risk factor for CLL through the acquisition of a single-point mutation enabling autonomous BCR signaling.

Maity PC et al.

Proceedings of the National Academy of Sciences of the United States of America, 2020

32047037 (PubMed )
Supplement: pnas.1913810117.sapp.pdf

BRAF(V600E) Kinase Domain Duplication Identified in Therapy-Refractory Melanoma Patient-Derived Xenografts.

Kemper K et al.

Cell Reports, 2016

27320919 (PubMed )
Supplement: mmc2.xlsx › Mutation_matrix

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1861.653
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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."