Varaico: Literature-Extracted Genetic Variants

Gene:RPA1
Variant:p.E240K
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RPA1

NM_002945.5:p.E240K

Associated Papers

Inducible pluripotent stem cell models to study bone marrow failure and MDS predisposition syndromes.

Sahoo SS et al.

Experimental Hematology, 2025

The canonical RPA complex interacts with Est3 to regulate yeast telomerase activity.

Moeller-McCoy CA et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

39913192 (PubMed )
Supplement: pnas.2419309122.sapp.pdf

Human hnRNPA1 reorganizes telomere-bound replication protein A.

Granger SL et al.

Nucleic Acids Research, 2024

The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.

Tummala H et al.

Embo Molecular Medicine, 2024

39198715 (PubMed )
Supplement: 44321_2024_118_MOESM4_ESM.xlsx › Dataset_EV1

A Test to Comprehensively Capture the Known Genetic Component of Familial Pulmonary Fibrosis.

Villeneuve J et al.

American Journal of Respiratory Cell and Molecular Biology, 2024

Human hnRNPA1 reorganizes telomere-bound Replication Protein A.

Granger SL et al.

Biorxiv : the Preprint Server for Biology, 2024

Germline landscape of RPA1, RPA2 and RPA3 variants in pediatric malignancies: identification of RPA1 as a novel cancer predisposition candidate gene.

Sharma R et al.

Frontiers in Oncology, 2023

Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue.

Sharma R et al.

Blood, 2022

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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."