Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.S32L
Back to variants list

RET

NM_020975.6:p.S32L

Associated Papers

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

Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.

Wu N et al.

Journal of Cellular and Molecular Medicine, 2020

32277576 (PubMed )
Supplement: JCMM-24-4931-s010.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

Mammal-restricted elements predispose human RET to folding impairment by HSCR mutations.

Kjaer S et al.

Nature Structural & Molecular Biology, 2010

Genetics of Hirschsprung disease and anorectal malformations.

Mundt E et al.

Seminars in Pediatric Surgery, 2010

RET(MEN 2B) is active in the endoplasmic reticulum before reaching the cell surface.

Runeberg-Roos P et al.

Oncogene, 2007

[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

Identification of a surface for binding to the GDNF-GFR alpha 1 complex in the first cadherin-like domain of RET.

Kjaer S et al.

The Journal of Biological Chemistry, 2003

A new therapeutic approach in medullary thyroid cancer treatment: inhibition of oncogenic RET signaling by adenoviral vector-mediated expression of a dominant-negative RET mutant.

Drosten M et al.

Surgery, 2002

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

Genetic disorders of calcium and phosphorus metabolism.

Root AW

Critical Reviews in Clinical Laboratory Sciences, 2000

A human model for multigenic inheritance: phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus.

Bolk S et al.

Proceedings of the National Academy of Sciences of the United States of America, 2000

Different mutations of the RET gene cause different human tumoral diseases.

Santoro M et al.

Biochimie, 1999

Glial cell line-derived neurotrophic factor differentially stimulates ret mutants associated with the multiple endocrine neoplasia type 2 syndromes and Hirschsprung's disease.

Carlomagno F et al.

Endocrinology, 1998

Molecular biology of the MEN2 gene.

Santoro M et al.

Journal of Internal Medicine, 1998

The genetics of anorectal malformations: a complex matter.

Lerone M et al.

Seminars in Pediatric Surgery, 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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."