Varaico: Literature-Extracted Genetic Variants

Gene:ATXN1
Variant:p.H209ins1
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ATXN1

NM_001128164.2:p.H209ins1

Associated Papers

Whole exome sequencing reveals an FCGBP variant associated with spontaneous intraabdominal hemorrhage in severe acute pancreatitis.

Tang QY et al.

Imetaomics, 2025

41675706 (PubMed )
Supplement: IMO2-2-e52-s002.xlsx › 2D

EMP3 sustains oncogenic EGFR/CDK2 signaling by restricting receptor degradation in glioblastoma.

Martija AA et al.

Acta Neuropathologica Communications, 2023

37936247 (PubMed )
Supplement: 40478_2023_1673_MOESM5_ESM.xlsx › 345002

ATR represents a therapeutic vulnerability in clear cell renal cell carcinoma.

Seidel P et al.

Jci Insight, 2022

36413415 (PubMed )
Supplement: jciinsight-7-156087-s060.xlsx › RCC4

Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Valentine H et al.

Cancer Research Communications, 2022

36643868 (PubMed )
Supplement: crc-22-0245-s07.xlsx › Variants_All_Exonic.exclude_ncR

APOBEC SBS13 Mutational Signature-A Novel Predictor of Radioactive Iodine Refractory Papillary Thyroid Carcinoma.

Siraj S et al.

Cancers, 2022

35326735 (PubMed )
Supplement: cancers-14-01584-s001.zip › SupplementaryTables.xlsx › Supplementary_Table_S3

Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Nagasawa S et al.

Communications Biology, 2021

33795819 (PubMed )
Supplement: 42003_2021_1959_MOESM5_ESM.xlsx › CaseB

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

Rare Case of Ulnar-Mammary-Like Syndrome With Left Ventricular Tachycardia and Lack of TBX3 Mutation.

Zlotina A et al.

Frontiers in Genetics, 2018

29963074 (PubMed )
Supplement: Table_1.XLSX › ____1
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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."