Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.L308L
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TP53

NM_000546.6:p.L308L

Associated Papers

TP53 germline pathogenic variants in modern humans were likely originated during recent human history.

Kou SH et al.

Nar Cancer, 2023

37304756 (PubMed )
Supplement: zcad025_supplemental_files.zip › Supplementary_Table_2.xlsx › BVs

Validation and clinical application of transactivation assays for RUNX1 variant classification.

Decker M et al.

Blood Advances, 2022

35026845 (PubMed )
Supplement: advancesADV2021006161-suppl1.pdf

From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.

Quinn EA et al.

Cold Spring Harbor Molecular Case Studies, 2019

30886117 (PubMed )
Supplement: supp_mcs.a003921_Supplemental_Table_1a.xlsx › S_Table1a._TP53_in_ClinVar

Somatic inactivating PTPRJ mutations and dysregulated pathways identified in canine malignant melanoma by integrated comparative genomic analysis.

Hendricks WPD et al.

Plos Genetics, 2018

30188888 (PubMed )
Supplement: pgen.1007589.s014.xlsx › Table_S4
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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."