Publications:

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Mutant p53K120R expression enables a partial capacity to modulate metabolism.

Frontiers In Genetics

Monti, Paola P; Ravera, Silvia S; Speciale, Andrea A; Velkova, Irena I; Foggetti, Giorgia G; Degan, Paolo P; Fronza, Gilberto G; Menichini, Paola P

Publication Date: 2022

Variant appearance in text: p53: Q165R

PubMed Link: 36226181

Variant Present in the following documents:

• Main text
• DataSheet1.pdf
• fgene-13-974662.pdf

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CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience

Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X

Publication Date: 2022-09-16

Variant appearance in text: p53: 494A>G

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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Comparing Two Neurodevelopmental Disorders Linked to CK2: Okur-Chung Neurodevelopmental Syndrome and Poirier-Bienvenu Neurodevelopmental Syndrome-Two Sides of the Same Coin?

Frontiers In Molecular Biosciences

Ballardin, Demetra D; Cruz-Gamero, Jose M JM; Bienvenu, Thierry T; Rebholz, Heike H

Publication Date: 2022

Variant appearance in text: p53: 494A>G

PubMed Link: 35693553

Variant Present in the following documents:

• Table2.pdf

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: TP53: 494A>G; Q165R

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10

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Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer

Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA

Publication Date: 2021-05

Variant appearance in text: TP53: 494A>G; Q165R

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

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NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas.

Scientific Reports

Belhadj, Sami S; Quintana, Isabel I; Mur, Pilar P; Munoz-Torres, Pau M PM; Alonso, M Henar MH; Navarro, Matilde M; Terradas, Mariona M; Piñol, Virginia V; Brunet, Joan J; Moreno, Victor V; Lázaro, Conxi C; Capellá, Gabriel G; Valle, Laura L

Publication Date: 2019-06-21

Variant appearance in text: TP53: 494A>G

PubMed Link: 31227763

Variant Present in the following documents:

• 41598_2019_45281_MOESM1_ESM.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: TP53: Q165R

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: TP53: Q165R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology

Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B

Publication Date: 2014-10-28

Variant appearance in text: TP53: Q165R

PubMed Link: 25348012

Variant Present in the following documents:

• 13059_2014_484_MOESM2_ESM.xlsx, sheet 1

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: TP53: Q165R

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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In vitro functional effects of XPC gene rare variants from bladder cancer patients.

Carcinogenesis

Qiao, Boling B; Ansari, Abdul-Haq AH; Scott, Gina B GB; Sak, Sei C SC; Chambers, Philip A PA; Elliott, Faye F; Teo, Mark T W MT; Bentley, Johanne J; Churchman, Michael M; Hall, Janet J; Taylor, Claire F CF; Bishop, Timothy D TD; Knowles, Margaret A MA; Kiltie, Anne E AE

Publication Date: 2011-04

Variant appearance in text: p53: 494A>G

PubMed Link: 21273643

Variant Present in the following documents:

• Main text

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