Varaico: Literature-Extracted Genetic Variants

Gene:AIM2
Variant:p.T343fs
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AIM2

NM_004833.3:p.T343fs

Associated Papers

A method to comprehensively identify germline SNVs, INDELs and CNVs from whole exome sequencing data of BRCA1/2 negative breast cancer patients.

Bianchi A et al.

Nar Genomics and Bioinformatics, 2024

The landscape of rare genetic variants in familial Waldenström macroglobulinemia.

Pemov A et al.

Blood Neoplasia, 2024

39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc8.xlsx › Supplementary_Table_7C

Multi-omics characterization reveals the pathogenesis of liver focal nodular hyperplasia.

Liu Y et al.

Iscience, 2022

36060063 (PubMed )
Supplement: mmc3.xlsx › Sheet1

A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.

Peng L et al.

Cell Death & Disease, 2022

35459861 (PubMed )
Supplement: 41419_2022_4844_MOESM4_ESM.xlsx › Supplementary_Table_3

Multiplatform Molecular Profiling Reveals Epigenomic Intratumor Heterogeneity in Ependymoma.

Liu SJ et al.

Cell Reports, 2020

32023450 (PubMed )
Supplement: NIHMS1568952-supplement-2.xls › WES_somatic_variants

Whole-Exome Sequencing Characterized the Landscape of Somatic Mutations and Pathways in Colorectal Cancer Liver Metastasis.

Feng L et al.

Journal of Oncology, 2019

31814826 (PubMed )
Supplement: 2684075.f1.zip › 2684075.f1 › Supplemental_Table_2.xlsx › Sheet1

Multiple region whole-exome sequencing reveals dramatically evolving intratumor genomic heterogeneity in esophageal squamous cell carcinoma.

Cao W et al.

Oncogenesis, 2015

26619400 (PubMed )
Supplement: oncsis201534x4.xls › Table_S3_PtB_nonsilmutation.txt

Novel recurrently mutated genes and a prognostic mutation signature in colorectal cancer.

Yu J et al.

Gut, 2015

24951259 (PubMed )
Supplement: gutjnl-2013-306620-s8.pdf

Genomic profile analysis of diffuse-type gastric cancers.

Lee YS et al.

Genome Biology, 2014

24690483 (PubMed )
Supplement: gb-2014-15-4-r55-S2.xlsx › Additional_file_2
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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."