Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.F893L
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RET

NM_020975.6:p.F893L

Associated Papers

A Single RET Mutation in Hirschsprung Disease Induces Intestinal Aganglionosis Via a Dominant-Negative Mechanism.

Sunardi M et al.

Cellular and Molecular Gastroenterology and Hepatology, 2023

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

Structure and function of RET in multiple endocrine neoplasia type 2.

Plaza-Menacho I

Endocrine-related Cancer, 2018

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

Hyndman BD et al.

Human Mutation, 2013

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

Martucciello G et al.

Der Pathologe, 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

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

Iwashita T et al.

Gastroenterology, 2001

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

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."