Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.Q147P
Back to variants list

BRCA2

NM_000059.4:p.Q147P

Associated Papers

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

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Dorling L et al.

Genome Medicine, 2022

35585550 (PubMed )
Supplement: 13073_2022_1052_MOESM2_ESM.xlsx › Table_S16

Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.

Burda P et al.

Journal of Inherited Metabolic Disease, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."