Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.Q147K
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BRCA2

NM_000059.4:p.Q147K

Associated Papers

Comprehensive profiling of somatic alterations and HRD characteristics in Chinese germline BRCA-mutated breast cancer patients.

Cui H et al.

American Journal of Cancer Research, 2026

Multi-regional sequencing reveals the genetic and immune heterogeneity of non-cancerous tissues in gastric cancer.

Zhou Y et al.

The Journal of Pathology, 2024

All exons are not created equal-exon vulnerability determines the effect of exonic mutations on splicing.

Holm LL et al.

Nucleic Acids Research, 2024

38324470 (PubMed )
Supplement: gkae077_supplemental_files.zip › supplementary_tables.xlsx › Supplementary_table_S1_-_ESM_DB

Understanding and predicting the functional consequences of missense mutations in BRCA1 and BRCA2.

Aljarf R et al.

Scientific Reports, 2022

35729312 (PubMed )
Supplement: 41598_2022_13508_MOESM2_ESM.xlsx › Sheet1

Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2.

Teranishi Y et al.

Journal of Medical Genetics, 2021

A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.

Sanz DJ et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2010

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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."