Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.E762Q
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RET

NM_020975.6:p.E762Q

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

The RET gene encodes RET protein, which triggers intracellular signaling pathways for enteric neurogenesis, and RET mutation results in Hirschsprung's disease.

Bhattarai C et al.

Aims Neuroscience, 2022

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

Roles of the RET Proto-oncogene in Cancer and Development.

Takahashi M et al.

Jma Journal, 2020

In silico profiling and structural insights of missense mutations in RET protein kinase domain by molecular dynamics and docking approach.

George Priya Doss C et al.

Molecular Biosystems, 2014

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

Hyndman BD et al.

Human Mutation, 2013

Consensus: a framework for evaluation of uncertain gene variants in laboratory test reporting.

Crockett DK et al.

Genome Medicine, 2012

22640420 (PubMed )
Supplement: gm347-S2.DOC

[Molecular biology, basic research and diagnosis of Hirschsprung's disease].

Martucciello G et al.

Der Pathologe, 2007

[Ultraviolet irradiation-mediated malignant melanoma induction with RET tyrosine kinase activation].

Kato M et al.

Nihon Eiseigaku Zasshi. Japanese Journal of Hygiene, 2007

Structure and chemical inhibition of the RET tyrosine kinase domain.

Knowles PP et al.

The Journal of Biological Chemistry, 2006

RET receptor signaling: dysfunction in thyroid cancer and Hirschsprung's disease.

Asai N et al.

Pathology International, 2006

RET and NTRK1 proto-oncogenes in human diseases.

Alberti L et al.

Journal of Cellular Physiology, 2003

Functional analysis of RET with Hirschsprung mutations affecting its kinase domain.

Iwashita T et al.

Gastroenterology, 2001

Hirschsprung's disease as a neurochristopathy.

Martucciello G

Pediatric Surgery International, 1997

Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and hirschsprung disease.

Eng C et al.

Human Mutation, 1997

Frequency of RET mutations in long- and short-segment Hirschsprung disease.

Seri M et al.

Human Mutation, 1997

RET mutations in multiple endocrine neoplasia type 2 and Hirschsprung disease.

Reynolds LF et al.

Current Opinion in Pediatrics, 1995

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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."