Varaico: Literature-Extracted Genetic Variants

Gene:HNF1A
Variant:p.K273E
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HNF1A

NM_000545.8:p.K273E

Associated Papers

Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Asselta R et al.

Thoracic Cancer, 2021

33704917 (PubMed )
Supplement: TCA-12-1271-s003.xls › Foglio1

Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.

Kim YS et al.

Bmc Urology, 2018

30064409 (PubMed )
Supplement: 12894_2018_380_MOESM1_ESM.xlsx › Supplementary_Table_1

Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.

Lee JY et al.

Translational Oncology, 2018

29161613 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Determining the role of missense mutations in the POU domain of HNF1A that reduce the DNA-binding affinity: A computational approach.

P S et al.

Plos One, 2017

Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.

Lee JY et al.

Oncotarget, 2015

26527317 (PubMed )
Supplement: oncotarget-06-43731-s002.xlsx › Table_S1

Molecular characterization of patients with pathologic complete response or early failure after neoadjuvant chemotherapy for locally advanced breast cancer using next generation sequencing and nCounter assay.

Park K et al.

Oncotarget, 2015

26009992 (PubMed )
Supplement: oncotarget-06-24499-s002.xlsx › Supplementary_Table_1

Intratumoral heterogeneity in a minority of ovarian low-grade serous carcinomas.

Tone AA et al.

Bmc Cancer, 2014

25523272 (PubMed )
Supplement: 12885_2014_5198_MOESM14_ESM.xlsx › Sheet1__2_

NCI-60 whole exome sequencing and pharmacological CellMiner analyses.

Reinhold WC et al.

Plos One, 2014

25032700 (PubMed )
Supplement: pone.0101670.s001.xlsx › Supplementary_Table_1

High-throughput sequencing and copy number variation detection using formalin fixed embedded tissue in metastatic gastric cancer.

Kim S et al.

Plos One, 2014

25372287 (PubMed )
Supplement: pone.0111693.s003.xls › ion_ampliseq_cancer_panel_mutat

A Bayesian ensemble approach with a disease gene network predicts damaging effects of missense variants of human cancers.

Won HH et al.

Human Genetics, 2013

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › COSMIC

Predicting the functional impact of protein mutations: application to cancer genomics.

Reva B et al.

Nucleic Acids Research, 2011

21727090 (PubMed )
Supplement: supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls › Sheet1

Spectrum of HNF1A somatic mutations in hepatocellular adenoma differs from that in patients with MODY3 and suggests genotoxic damage.

Jeannot E et al.

Diabetes, 2010

Genotype-phenotype correlation in hepatocellular adenoma: new classification and relationship with HCC.

Zucman-Rossi J et al.

Hepatology (baltimore, Md.), 2006

Bi-allelic inactivation of TCF1 in hepatic adenomas.

Bluteau O et al.

Nature Genetics, 2002

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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."