Varaico: Literature-Extracted Genetic Variants

Gene:RIF1
Variant:p.R1421H
Back to variants list

RIF1

NM_018151.5:p.R1421H

Associated Papers

Biallelic GINS2 variant p.(Arg114Leu) causes Meier-Gorlin syndrome with craniosynostosis.

Nabais Sá MJ et al.

Journal of Medical Genetics, 2022

34353863 (PubMed )
Supplement: jmedgenet-2020-107572supp003.xlsx › Variants

Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Aguiar T et al.

Frontiers in Genetics, 2022

35495172 (PubMed )
Supplement: DataSheet1.xlsx › Supp_table_8

Integrated Analysis of Germline and Tumor DNA Identifies New Candidate Genes Involved in Familial Colorectal Cancer.

Díaz-Gay M et al.

Cancers, 2019

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."