Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.V145G
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RET

NM_020975.6:p.V145G

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

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

Whole Exome Sequencing Identifies a Novel Pathogenic RET Variant in Hirschsprung Disease.

Wu W et al.

Frontiers in Genetics, 2018

Heterozygous p.S811F RET gene mutation associated with renal agenesis, oligomeganephronia and total colonic aganglionosis: a case report.

Sugimoto K et al.

Bmc Nephrology, 2016

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

RET is a potential tumor suppressor gene in colorectal cancer.

Luo Y et al.

Oncogene, 2013

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

Functional analyses of RET mutations in Chinese Hirschsprung disease patients.

Leon TY et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2012

The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors.

Stehr H et al.

Molecular Cancer, 2011

21575214 (PubMed )
Supplement: 1476-4598-10-54-S3.XLS › mutations.txt

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

Kjaer S et al.

Nature Structural & Molecular Biology, 2010

The consensus coding sequences of human breast and colorectal cancers.

Sjöblom T et al.

Science (new York, N.y.), 2006

16959974 (PubMed )
Supplement: 1133427_som_tables.zip › Table_S4_-__Somatic_mutations_identified_in_breast_and_colorectal_cancers_8-29-06.xls › Sheet1

Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease.

Garcia-Barceló M et al.

Clinical Chemistry, 2004

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