Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.R136K
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BRCA1

NM_007294.4:p.R136K

Associated Papers

Ethnic-specificity, evolution origin and deleteriousness of Asian BRCA variation revealed by over 7500 BRCA variants derived from Asian population.

Qin Z et al.

International Journal of Cancer, 2023

36385461 (PubMed )
Supplement: IJC-152-1159-s002.xlsx › BRCA1

Genomic characterization and tumor evolution in paired samples of metaplastic breast carcinoma.

Stradella A et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022

Characterization of BRCA1-deficient premalignant tissues and cancers identifies Plekha5 as a tumor metastasis suppressor.

Liu J et al.

Nature Communications, 2020

32978388 (PubMed )
Supplement: 41467_2020_18637_MOESM8_ESM.xlsx › 476MMG_and_476PT

KIT mutations and CD117 overexpression are markers of better progression-free survival in vulvar melanomas.

Dias-Santagata D et al.

The British Journal of Dermatology, 2017

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

Martelotto LG et al.

Genome Biology, 2014

25348012 (PubMed )
Supplement: 13059_2014_484_MOESM2_ESM.xlsx › Additional_file_2

Recurrent gross mutations of the PTEN tumor suppressor gene in breast cancers with deficient DSB repair.

Saal LH et al.

Nature Genetics, 2008

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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."