Varaico: Literature-Extracted Genetic Variants

Gene:JAK1
Variant:p.P430fs
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JAK1

NM_002227.4:p.P430fs

Associated Papers

Single-cell DNA and surface protein characterization of high hyperdiploid acute lymphoblastic leukemia at diagnosis and during treatment.

Aertgeerts M et al.

Hemasphere, 2025

39944233 (PubMed )
Supplement: HEM3-9-e70085-s002.xlsx › XG111.D0_XEM_variants

Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.

Wang S et al.

Journal of Cellular and Molecular Medicine, 2024

38887977 (PubMed )
Supplement: JCMM-28-e18497-s004.xlsx › Sheet1

Efficacy, safety and biomarker analysis of durvalumab in patients with mismatch-repair deficient or microsatellite instability-high solid tumours.

Geurts BS et al.

Bmc Cancer, 2023

Pan-cancer clinical impact of latent drivers from double mutations.

Yavuz BR et al.

Communications Biology, 2023

36808143 (PubMed )
Supplement: 42003_2023_4519_MOESM3_ESM.xlsx › VariantClasses

Clinicopathological and molecular analysis of microsatellite instability in prostate cancer: a multi-institutional study in China.

Zhang H et al.

Frontiers in Oncology, 2023

Identifying Phased Mutations and Complex Rearrangements in Human Prostate Cancer Cell Lines through Linked-Read Whole-Genome Sequencing.

Pham MT et al.

Molecular Cancer Research : Mcr, 2022

Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.

Garcia-Prieto CA et al.

Bioinformatics (oxford, England), 2022

35512388 (PubMed )
Supplement: btac306_supplementary_data.zip › Supplementary_files.zip › Supplementary_files › Supplementary_file_10.xlsx › Sheet1

Recurrent mutations in topoisomerase IIα cause a previously undescribed mutator phenotype in human cancers.

Boot A et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

35058360 (PubMed )
Supplement: pnas.2114024119.sd08.xlsx › Dataset.S8

Dynamics of genomic and immune responses during primary immunotherapy resistance in mismatch repair-deficient tumors.

Takahashi N et al.

Cold Spring Harbor Molecular Case Studies, 2020

NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Bertucci F et al.

Molecular Oncology, 2020

31854063 (PubMed )
Supplement: MOL2-14-504-s010.xlsx › TableS3

Multi-omics characterization of molecular features of gastric cancer correlated with response to neoadjuvant chemotherapy.

Li Z et al.

Science Advances, 2020

32133402 (PubMed )
Supplement: aay4211_Table_S2.xlsx › SomaticMutations

Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Dong X et al.

Communications Biology, 2020

31925297 (PubMed )
Supplement: 42003_2019_736_MOESM10_ESM.xlsx › Sheet1
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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."