Varaico: Literature-Extracted Genetic Variants

Gene:FAT1
Variant:p.Q2933L
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FAT1

NM_005245.4:p.Q2933L

Associated Papers

Convergence for Inactivation of TGF-β Signaling Is a Common Feature of Advanced Pancreatic Cancer.

Hong J et al.

Cancer Discovery, 2026

Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.

Li S et al.

Nature Communications, 2025

41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3C

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM14_ESM.xlsx › S14

Integrated Whole-Exome and Transcriptome Sequencing Indicated Dysregulation of Cholesterol Metabolism in Eyelid Sebaceous Gland Carcinoma.

Wang Y et al.

Translational Vision Science & Technology, 2023

36735267 (PubMed )
Supplement: tvst-12-2-4_s004.xls › S5

High p16 expression and heterozygous RB1 loss are biomarkers for CDK4/6 inhibitor resistance in ER+ breast cancer.

Palafox M et al.

Nature Communications, 2022

36071033 (PubMed )
Supplement: 41467_2022_32828_MOESM4_ESM.xlsx › Fig_2A_and_Table_S4

The Gain-of-Function p53 R248W Mutant Promotes Migration by STAT3 Deregulation in Human Pancreatic Cancer Cells.

Klemke L et al.

Frontiers in Oncology, 2021

34178628 (PubMed )
Supplement: DataSheet_1.pdf

Activating mutations in CSF1R and additional receptor tyrosine kinases in histiocytic neoplasms.

Durham BH et al.

Nature Medicine, 2019

31768065 (PubMed )
Supplement: NIHMS1541330-supplement-1.pdf

Targeted next generation sequencing identified clinically actionable mutations in patients with esophageal sarcomatoid carcinoma.

Lu H et al.

Bmc Cancer, 2018

29506494 (PubMed )
Supplement: 12885_2018_4159_MOESM2_ESM.xlsx › Sheet1

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A06Y-01A.domain
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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."