Varaico: Literature-Extracted Genetic Variants

Gene:EP300
Variant:p.Q2228*
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EP300

NM_001429.4:p.Q2228*

Associated Papers

The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma.

Hubert JN et al.

Cancers, 2021

34067022 (PubMed )
Supplement: cancers-13-02243-s001.zip › Hubert_Suybeng_MelanomaRCC_Supp_Tables_proofread.xlsx › Table_S3

Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.

Najafi A et al.

Clinical Genetics, 2020

31506931 (PubMed )
Supplement: CGE-97-235-s002.xlsx › All_variants_annotated

Patterns and functional implications of rare germline variants across 12 cancer types.

Lu C et al.

Nature Communications, 2015

26689913 (PubMed )
Supplement: ncomms10086-s3.xlsx › supplementary_data_2
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