Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.R77C
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RET

NM_020975.6:p.R77C

Associated Papers

Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.

Alnaqbi H et al.

Scientific Reports, 2025

40594066 (PubMed )
Supplement: 41598_2025_5296_MOESM2_ESM.xlsx › Supplementary_Table_1

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

Genomic Landscape of RTK/RAS Pathway and Tumor Immune Infiltration as Prognostic Indicator of Lung Adenocarcinoma.

Yin XQ et al.

Frontiers in Oncology, 2022

35936718 (PubMed )
Supplement: Table_4.xlsx › MAF_infomation

HER2 Amplification in Advanced NSCLC Patients After Progression on EGFR-TKI and Clinical Response to EGFR-TKI Plus Pyrotinib Combination Therapy.

Gan J et al.

Oncotargets and Therapy, 2021

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

Functional Studies on Novel RET Mutations and Their Implications for Genetic Counseling for Hirschsprung Disease.

Wang H et al.

Frontiers in Genetics, 2019

RET somatic mutations are underrecognized in Hirschsprung disease.

Jiang Q et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

Identification of different mutational profiles in cancers arising in specific colon segments by next generation sequencing.

Oliveira DM et al.

Oncotarget, 2018

29844865 (PubMed )
Supplement: oncotarget-09-23960-s003.xlsx › Supplemental_Table_S2

Next-generation sequencing analysis of receptor-type tyrosine kinase genes in surgically resected colon cancer: identification of gain-of-function mutations in the RET proto-oncogene.

Mendes Oliveira D et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2018

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

Genotyping analysis of 3 RET polymorphisms demonstrates low somatic mutation rate in Chinese Hirschsprung disease patients.

Zhang Z et al.

International Journal of Clinical and Experimental Pathology, 2015

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

Modification of multiple endocrine neoplasia 2A phenotype by cell membrane proximity of RET mutations in exon 10.

Machens A et al.

Endocrine-related Cancer, 2009

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

Martucciello G et al.

Der Pathologe, 2007

Self-association of the transmembrane domain of RET underlies oncogenic activation by MEN2A mutations.

Kjaer S et al.

Oncogene, 2006

Polymerase chain reaction-single strand conformational polymorphism analysis of rearranged during transfection proto-oncogene in Chinese familial Hirschsprung's disease.

Guan T et al.

World Journal of Gastroenterology, 2005

Segregation at three loci explains familial and population risk in Hirschsprung disease.

Gabriel SB et al.

Nature Genetics, 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

Familial form of hirschsprung disease: nucleotide sequence studies reveal point mutations in the RET proto-oncogene in two of six families but not in other candidate genes.

Munnes M et al.

American Journal of Medical Genetics, 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

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