Title : The RET E616Q Variant is a Gain of Function Mutation Present in a Family with Features of Multiple Endocrine Neoplasia 2A.

Pub. Date : 2017 Mar

PMID : 27704398






3 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 Genetic testing revealed the presence of a heterozygous variant of unknown significance (VUS) in the cysteine-rich region of exon 10 in the RET gene (c.1846G>C, p.E616Q), in both affected siblings and their unaffected mother. Cysteine ret proto-oncogene Homo sapiens
2 Variants in the cysteine-rich region of the RET gene, outside of the key cysteine residues, may contribute to the development of MEN2 in a less aggressive manner, with a lower penetrance of MTC. Cysteine ret proto-oncogene Homo sapiens
3 Variants in the cysteine-rich region of the RET gene, outside of the key cysteine residues, may contribute to the development of MEN2 in a less aggressive manner, with a lower penetrance of MTC. Cysteine ret proto-oncogene Homo sapiens