Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.R330Q
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RET

NM_020975.6:p.R330Q

Associated Papers

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

An integrative pan cancer analysis of RET aberrations and their potential clinical implications.

Zhou L et al.

Scientific Reports, 2022

35978072 (PubMed )
Supplement: 41598_2022_17791_MOESM3_ESM.xlsx › table

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

Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.

McDonell LM et al.

Human Molecular Genetics, 2015

Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.

Toledo RA et al.

Endocrine-related Cancer, 2015

25425582 (PubMed )
Supplement: supp_ERC-14-0491_Supplementary_table_2.xlsx › Sheet1

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

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

Asai N et al.

Pathology International, 2006

Homozygosity for a frequent and weakly penetrant predisposing allele at the RET locus in sporadic Hirschsprung disease.

Pelet A et al.

Journal of Medical Genetics, 2005

Molecular modeling of the extracellular domain of the RET receptor tyrosine kinase reveals multiple cadherin-like domains and a calcium-binding site.

Anders J et al.

The Journal of Biological Chemistry, 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

Mechanism of ret dysfunction by Hirschsprung mutations affecting its extracellular domain.

Iwashita T et al.

Human Molecular Genetics, 1996

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

Long segment and short segment familial Hirschsprung's disease: variable clinical expression at the RET locus.

Edery P et al.

Journal of Medical Genetics, 1994

[Mutations of RET proto-oncogene in Hirschsprung disease].

Lyonnet S et al.

Comptes Rendus De L'academie Des Sciences. Serie Iii, Sciences De La Vie, 1994

[Identification of mutation of RET proto-oncogene in Hirschsprung disease].

Attié T et al.

Comptes Rendus Des Seances De La Societe De Biologie Et De Ses Filiales, 1994

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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."