Varaico: Literature-Extracted Genetic Variants

Gene:PNPT1
Variant:p.I121V
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PNPT1

NM_033109.5:p.I121V

Associated Papers

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.

Villa M et al.

British Journal of Cancer, 2024

39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 18R12365.xls › SNVIndel

Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

El-Gazzar A et al.

Embo Molecular Medicine, 2023

36916446 (PubMed )
Supplement: EMMM-15-e16834-s012.xlsx › WES_SEC16B_mutant

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Sebate B et al.

Plos One, 2021

33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8772__III-8__

Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.

Zhang X et al.

Bmc Neurology, 2018

30497413 (PubMed )
Supplement: 12883_2018_1199_MOESM5_ESM.xlsx › Supplementary_Table_5_The_index

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-0007-Table_S10.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-A2-A0CT-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."