Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.Q65*
Back to variants list

BRIP1

NM_032043.3:p.Q65*

Associated Papers

Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.

He J et al.

Frontiers in Genetics, 2024

38948361 (PubMed )
Supplement: Table1.XLSX › Sheet1

Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.

Subasri V et al.

Cancer Research Communications, 2023

37377903 (PubMed )
Supplement: crc-22-0402-s04.xlsx › A._Class3_SNVs_indels

Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.

Kondrashova O et al.

Cancers, 2021

33917078 (PubMed )
Supplement: cancers-13-01762-s001.zip › Kondrashova_etal_Supp_Tables.xlsx › Table_S5

An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.

Vora NL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer.

Weber-Lassalle N et al.

Breast Cancer Research : Bcr, 2018

29368626 (PubMed )
Supplement: 13058_2018_935_MOESM1_ESM.pdf
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."