Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.R813Q
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RET

NM_020975.6:p.R813Q

Associated Papers

Discovery of APS03118, a Potent and Selective Next-Generation RET Inhibitor with a Novel Kinase Hinge Scaffold.

Zhong J et al.

Journal of Medicinal Chemistry, 2025

Circulating Tumor DNA: Less Invasive, More Representative Method to Unveil the Genomic Landscape of Newly Diagnosed Multiple Myeloma Than Bone Marrow Aspirates.

Liu Y et al.

Cancers, 2022

36230837 (PubMed )
Supplement: cancers-14-04914-s001.zip › cancers-1924136-supplementary.xlsx › Supplemental_Table_2

Comprehensive Assessment of Indian Variations in the Druggable Kinome Landscape Highlights Distinct Insights at the Sequence, Structure and Pharmacogenomic Stratum.

Panda G et al.

Frontiers in Pharmacology, 2022

35865963 (PubMed )
Supplement: Table12.xlsx › Sheet1

Multiple functional effects of RET kinase domain sequence variants in Hirschsprung disease.

Hyndman BD et al.

Human Mutation, 2013

Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations.

Chatterjee R et al.

Human Genetics, 2012

Double heterozygosity for a RET substitution interfering with splicing and an EDNRB missense mutation in Hirschsprung disease.

Auricchio A et al.

American Journal of Human Genetics, 1999

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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."