Varaico: Literature-Extracted Genetic Variants

Gene:BRIP1
Variant:p.H396D
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BRIP1

NM_032043.3:p.H396D

Associated Papers

Comprehensive Mutational Analysis of the BRCA1-Associated DNA Helicase and Tumor-Suppressor FANCJ/BACH1/BRIP1.

Calvo JA et al.

Molecular Cancer Research : Mcr, 2021

Helicase-inactivating BRIP1 mutation yields Fanconi anemia with microcephaly and other congenital abnormalities.

Kamal L et al.

Cold Spring Harbor Molecular Case Studies, 2020

FANCJ compensates for RAP80 deficiency and suppresses genomic instability induced by interstrand cross-links.

Awate S et al.

Nucleic Acids Research, 2020

Holding All the Cards-How Fanconi Anemia Proteins Deal with Replication Stress and Preserve Genomic Stability.

Datta A et al.

Genes, 2019

A minimal threshold of FANCJ helicase activity is required for its response to replication stress or double-strand break repair.

Bharti SK et al.

Nucleic Acids Research, 2018

BLM's balancing act and the involvement of FANCJ in DNA repair.

Dhar S et al.

Cell Cycle (georgetown, Tex.), 2018

Fanconi anemia in 55-year-old identical twins first presenting as fatal post-chemotherapy pancytopenia.

Stevens H et al.

American Journal of Hematology, 2016

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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."