Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.S767R
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RET

NM_020975.6:p.S767R

Associated Papers

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

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

Hyndman BD et al.

Human Mutation, 2013

Organotypic specificity of key RET adaptor-docking sites in the pathogenesis of neurocristopathies and renal malformations in mice.

Jain S et al.

The Journal of Clinical Investigation, 2010

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI-

[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

Biological effects of the dual phenotypic Janus mutation of ret cosegregating with both multiple endocrine neoplasia type 2 and Hirschsprung's disease.

Arighi E et al.

Molecular Endocrinology (baltimore, Md.), 2004

The pathogenesis of Hirschsprung disease.

Belknap WM

Current Opinion in Gastroenterology, 2002

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

Iwashita T et al.

Gastroenterology, 2001

The RET proto-oncogene induces apoptosis: a novel mechanism for Hirschsprung disease.

Bordeaux MC et al.

The Embo Journal, 2000

Various mechanisms cause RET-mediated signaling defects in Hirschsprung's disease.

Pelet A et al.

The Journal of Clinical Investigation, 1998

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

Diversity of RET proto-oncogene mutations in familial and sporadic Hirschsprung disease.

Attié T et al.

Human Molecular Genetics, 1995

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