Varaico: Literature-Extracted Genetic Variants

Gene:TP53
Variant:p.K249E
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TP53

NM_001126115.2:p.K249E

Associated Papers

TP53 variant clusters stratify phenotypic diversity in germline carriers and reveal an osteosarcoma-prone subgroup.

Fischer NW et al.

Nature Communications, 2025

41022739 (PubMed )
Supplement: 41467_2025_63528_MOESM7_ESM.xlsx › Sheet1

TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.

Ben-Cohen G et al.

Briefings in Bioinformatics, 2022

35043155 (PubMed )
Supplement: supplementary_table_s1_bbab524.xlsx › S1B._Negative_Set

Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Guindalini RSC et al.

Scientific Reports, 2022

35264596 (PubMed )
Supplement: 41598_2022_7383_MOESM3_ESM.xlsx › Planilha1

Cancer Variant Interpretation Group UK (CanVIG-UK): an exemplar national subspecialty multidisciplinary network.

Garrett A et al.

Journal of Medical Genetics, 2020

32170000 (PubMed )
Supplement: jmedgenet-2019-106759supp002.pdf

Targeted sequencing of FH-deficient uterine leiomyomas reveals biallelic inactivating somatic fumarase variants and allows characterization of missense variants.

Popp B et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

32612247 (PubMed )
Supplement: 41379_2020_596_MOESM2_ESM.xlsx › allFH_missense

Establishment and characterization of patient-derived cancer models of malignant peripheral nerve sheath tumors.

Oyama R et al.

Cancer Cell International, 2020

Negative regulation of p53 functions by Daxx and the involvement of MDM2.

Zhao LY et al.

The Journal of Biological Chemistry, 2004

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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."