Varaico: Literature-Extracted Genetic Variants

Gene:TEP1
Variant:p.R362C
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TEP1

NM_007110.5:p.R362C

Associated Papers

Genomic profiling of multiple sequentially acquired tumor metastatic sites from an "exceptional responder" lung adenocarcinoma patient reveals extensive genomic heterogeneity and novel somatic variants driving treatment response.

Biswas R et al.

Cold Spring Harbor Molecular Case Studies, 2016

27900369 (PubMed )
Supplement: supp_mcs.a001263_SuppTable_S3.xlsx › Supplementary_Table_S3_A

Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway.

Zhou XP et al.

American Journal of Human Genetics, 2003

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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."