Variant: rs143795581 

    present in Gene: RET
    present in Chromosome: 10
    Position on Chromosome: 43114596
    Alleles of this Variant: A/C;G

rs143795581 in RET gene and Multiple Endocrine Neoplasia Type 2a PMID 26269449 2015 Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients.

PMID 15858153 2005 The novel variants K666E, IVS9-11G-->A, D631V in cis with H665Q, D631E (with C634Y), E623K (in trans with C618S), 616delGAG (in trans with C609Y), Y606C, C630R, and R635-T636insELCR;T636P were detected in patients with various clinical presentations ranging from thyroid goiter, medullary thyroid carcinoma, and pheochromocytoma to classic multiple endocrine neoplasia type 2A.

PMID 20103606 2010 Four novel RET germline variants in exons 8 and 11 display an oncogenic potential in vitro.

PMID 21690267 2011 Functional characterization of the MTC-associated germline RET-K666E mutation: evidence of oncogenic potential enhanced by the G691S polymorphism.

PMID 27673361 2016 Medullary Thyroid Carcinoma Associated with Germline RETK666N Mutation.

rs143795581 in RET gene and Multiple endocrine neoplasia Type 2 PMID 21690267 2011 Functional characterization of the MTC-associated germline RET-K666E mutation: evidence of oncogenic potential enhanced by the G691S polymorphism.

PMID 15858153 2005 The novel variants K666E, IVS9-11G-->A, D631V in cis with H665Q, D631E (with C634Y), E623K (in trans with C618S), 616delGAG (in trans with C609Y), Y606C, C630R, and R635-T636insELCR;T636P were detected in patients with various clinical presentations ranging from thyroid goiter, medullary thyroid carcinoma, and pheochromocytoma to classic multiple endocrine neoplasia type 2A.

rs143795581 in RET gene and Neoplastic Syndromes, Hereditary PMID 25637381 2015 Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

PMID 21690267 2011 Functional characterization of the MTC-associated germline RET-K666E mutation: evidence of oncogenic potential enhanced by the G691S polymorphism.

PMID 15858153 2005 Nine novel germline gene variants in the RET proto-oncogene identified in twelve unrelated cases.