Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.R897Q
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RET

NM_020975.6:p.R897Q

Associated Papers

RET Gene Alterations in Clinical Practice: A Comprehensive Review and Database Update.

Ricciardi Tenore C et al.

Genes, 2025

41465145 (PubMed )
Supplement: genes-16-01472-s001.zip › genes-3934011-supplementary.pdf

Somatic mutations in Middle East and North Africa breast cancer patients: a systematic review.

Abujamous L et al.

The Oncologist, 2025

40665690 (PubMed )
Supplement: oyaf205_supplementary_data.zip › SupplementaryTable3.xlsx › SupplementaryTable3

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

Novel Calcium-Binding Ablating Mutations Induce Constitutive RET Activity and Drive Tumorigenesis.

Tabata J et al.

Cancer Research, 2022

36166639 (PubMed )
Supplement: can-22-0834_supplementary_table_s1_suppst1.xlsx › Supplementary_Table_S1

Targeted Next-Generation Sequencing-Based Multiple Gene Mutation Profiling of Patients with Rectal Adenocarcinoma Receiving or Not Receiving Neoadjuvant Chemoradiotherapy.

Chang YK et al.

International Journal of Molecular Sciences, 2022

36142267 (PubMed )
Supplement: ijms-23-10353-s001.zip › ijms-1910530-supplementary.pdf

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

Size matters: Large copy number losses in Hirschsprung disease patients reveal genes involved in enteric nervous system development.

Kuil LE et al.

Plos Genetics, 2021

Landscape of somatic mutations in breast cancer: new opportunities for targeted therapies in Saudi Arabian patients.

Barakeh DH et al.

Oncotarget, 2021

33868589 (PubMed )
Supplement: oncotarget-12-686-s002.xlsx › Sheet1

Sequence characterization of RET in 117 Chinese Hirschsprung disease families identifies a large burden of de novo and parental mosaic mutations.

Jiang Q et al.

Orphanet Journal of Rare Diseases, 2019

Targeted next-generation sequencing of well-differentiated rectal, gastric, and appendiceal neuroendocrine tumors to identify potential targets.

Park HY et al.

Human Pathology, 2019

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

Plaza-Menacho I

Endocrine-related Cancer, 2018

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

[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

Haplotypes of the human RET proto-oncogene associated with Hirschsprung disease in the Italian population derive from a single ancestral combination of alleles.

Lantieri F et al.

Annals of Human Genetics, 2006

Single nucleotide polymorphic alleles in the 5' region of the RET proto-oncogene define a risk haplotype in Hirschsprung's disease.

Sancandi M et al.

Journal of Medical Genetics, 2003

Association between c135G/A genotype and RET proto-oncogene germline mutations and phenotype of Hirschsprung's disease.

Fitze G et al.

Lancet (london, England), 2002

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

Iwashita T et al.

Gastroenterology, 2001

Large and diverse numbers of human diseases with HIKE mutations.

Ciccarelli FD et al.

Human Molecular Genetics, 2000

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

Loss of function effect of RET mutations causing Hirschsprung disease.

Pasini B et al.

Nature Genetics, 1995

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