Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.L194L
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TP53

NM_000546.6:p.L194L

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

Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Doffe F et al.

Cell Death and Differentiation, 2021

33257846 (PubMed )
Supplement: 41418_2020_672_MOESM1_ESM.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

Variation analysis of PUM1 gene in Chinese women with primary ovarian insufficiency.

Luo W et al.

Journal of Assisted Reproduction and Genetics, 2018

TP53 germline and somatic mutations in a patient with fibrolamellar hepatocellular carcinoma.

Andrade RC et al.

Familial Cancer, 2018

p16INK4A and p14ARF tumor suppressor pathways are deregulated in malignant rhabdoid tumors.

Venneti S et al.

Journal of Neuropathology and Experimental Neurology, 2011

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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."