Varaico: Literature-Extracted Genetic Variants

Gene:JAK1
Variant:p.P430fs
Back to variants list

JAK1

NM_002227.4:p.P430fs

Associated Papers

The Impact of JAK1 Pathogenic Variants and MHC-I Expression on Response to Immune Checkpoint Inhibition in Endometrial Cancer.

Carballo EV et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.

Kauppinen AK et al.

International Journal of Cancer, 2025

40772756 (PubMed )
Supplement: IJC-157-2294-s002.xlsx › A_Blood_as_normal

Immunohistochemical "null" pattern of all four mismatch repair proteins in Lynch syndrome-associated small bowel adenocarcinoma: a case report and comprehensive genomic profiling.

Kageyama S et al.

Virchows Archiv : an International Journal of Pathology, 2025

Genomic profiling and clinical utility of circulating tumor DNA in metastatic prostate cancer: SCRUM-Japan MONSTAR SCREEN project.

Shiota M et al.

Bjc Reports, 2024

39516321 (PubMed )
Supplement: 44276_2024_49_MOESM4_ESM.xlsx › supplementary_table_2

Somatic Mutations Alter Interleukin Signaling Pathways in Grade II Invasive Breast Cancer Patients: An Egyptian Experience.

Nassar A et al.

Current Issues in Molecular Biology, 2022

36547062 (PubMed )
Supplement: cimb-44-00401-s001.zip › supplementary_2.xlsx › CCP_ALL_source

Gene mutations in sporadic lymphangioleiomyomatosis and genotype-phenotype correlation analysis.

Huang J et al.

Bmc Pulmonary Medicine, 2022

36117164 (PubMed )
Supplement: 12890_2022_2154_MOESM4_ESM.xlsx › sheet1

Genomic landscape of patients with FLT3-mutated acute myeloid leukemia (AML) treated within the CALGB 10603/RATIFY trial.

Jahn N et al.

Leukemia, 2022

35922444 (PubMed )
Supplement: 41375_2022_1650_MOESM2_ESM.xlsx › NGS_dataset

A Case Report of Immunotherapy-Resistant MSI-H Gastric Cancer with Significant Intrapatient Tumoral Heterogeneity Characterized by Histologic Dedifferentiation.

Kethireddy N et al.

Journal of Clinical Medicine, 2022

PARP Inhibitor Insensitivity to BRCA1/2 Monoallelic Mutations in Microsatellite Instability-High Cancers.

Sokol ES et al.

Jco Precision Oncology, 2022

Whole-Exome Sequencing Reveals Clinical Potential of Circulating Tumor DNA from Peritoneal Fluid and Plasma in Endometrial Cancer.

Ju HY et al.

Cancers, 2022

35626111 (PubMed )
Supplement: cancers-14-02506-s001.zip › Supplementary_Tables.xlsx › Supplementary_Table_S2

Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.

Aoyagi Y et al.

Plos One, 2022

35358259 (PubMed )
Supplement: pone.0266112.s001.xlsx › Patients

CCNE1 copy number is a biomarker for response to combination WEE1-ATR inhibition in ovarian and endometrial cancer models.

Xu H et al.

Cell Reports. Medicine, 2021

34622231 (PubMed )
Supplement: mmc1.pdf

Histiocytic and Dendritic Cell Sarcomas of Hematopoietic Origin Share Targetable Genomic Alterations Distinct from Follicular Dendritic Cell Sarcoma.

Massoth LR et al.

The Oncologist, 2021

33904632 (PubMed )
Supplement: ONCO-26-e1263-s001.xlsx › Variants

Tumor fraction-guided cell-free DNA profiling in metastatic solid tumor patients.

Tsui DWY et al.

Genome Medicine, 2021

34059130 (PubMed )
Supplement: 13073_2021_898_MOESM3_ESM.xlsx › SuppTable1

Clinical implications of plasma circulating tumor DNA in gynecologic cancer patients.

Charo LM et al.

Molecular Oncology, 2021

32881280 (PubMed )
Supplement: MOL2-15-67-s001.docx

Precision Oncology in Metastatic Uterine Cancer; Croatian First-Year Experience of the Comprehensive Genomic Profiling in Everyday Clinical Practice.

Čerina D et al.

Pathology Oncology Research : Por, 2021

34646088 (PubMed )
Supplement: DataSheet2.docx

Genomic profiling reveals high frequency of DNA repair genetic aberrations in gallbladder cancer.

Abdel-Wahab R et al.

Scientific Reports, 2020

33328484 (PubMed )
Supplement: 41598_2020_77939_MOESM1_ESM.xlsx › Sheet1

Genetic markers and phosphoprotein forms of beta-catenin pβ-Cat552 and pβ-Cat675 are prognostic biomarkers of cervical cancer.

Scholl SM et al.

Ebiomedicine, 2020

33096476 (PubMed )
Supplement: mmc2.xlsx › RAIDS_algo_filtering_wLOH_forma

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

33028646 (PubMed )
Supplement: supp_mcs.a005678_Supplemental_Tables_.xlsx › Supplementary_Table_S2

Wnt-pathway Activating Mutations Are Associated with Resistance to First-line Abiraterone and Enzalutamide in Castration-resistant Prostate Cancer.

Isaacsson Velho P et al.

European Urology, 2020

The Drug Rediscovery protocol facilitates the expanded use of existing anticancer drugs.

van der Velden DL et al.

Nature, 2019

Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.

Broutier L et al.

Nature Medicine, 2017

29131160 (PubMed )
Supplement: NIHMS74480-supplement-Supplementary_Dataset_4.xlsx › S10_CC-1_coding_Indels

Exceptional Response to Nivolumab and Stereotactic Body Radiation Therapy (SBRT) in Neuroendocrine Cervical Carcinoma with High Tumor Mutational Burden: Management Considerations from the Center For Personalized Cancer Therapy at UC San Diego Moores Cancer Center.

Sharabi A et al.

The Oncologist, 2017

Next-Generation Sequencing.

Le Gallo M et al.

Advances in Experimental Medicine and Biology, 2017

Microsatellite instability derived JAK1 frameshift mutations are associated with tumor immune evasion in endometrioid endometrial cancer.

Stelloo E et al.

Oncotarget, 2016

27213585 (PubMed )
Supplement: oncotarget-07-39885-s001.pdf

Genetic alterations of triple negative breast cancer by targeted next-generation sequencing and correlation with tumor morphology.

Weisman PS et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2016

26939876 (PubMed )
Supplement: NIHMS752475-supplement-3.xlsx › Supplementary_Table_3

JAK1 truncating mutations in gynecologic cancer define new role of cancer-associated protein tyrosine kinase aberrations.

Ren Y et al.

Scientific Reports, 2013

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."