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Gene RET
Variant Y806C
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions RET Y806C lies within the protein kinase domain of the Ret protein (UniProt.org). Y806C is predicted to lead to a gain of Ret protein function as indicated by transformation of cultured cells (PMID: 10679286), and has also been demonstrated to occur as a secondary resistance mutation in conjunction with other RET mutations (PMID: 19029224).
Associated Drug Resistance Y
Category Variants Paths

RET mutant RET act mut RET Y806C

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Transcript NM_020975.6
gDNA chr10:g.43119555A>G
cDNA c.2417A>G
Protein p.Y806C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406743.1 chr10:g.43119555A>G c.2417A>G p.Y806C RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43119555A>G c.2417A>G p.Y806C RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43119555A>G c.2417A>G p.Y806C RefSeq GRCh38/hg38
NM_020975 chr10:g.43119555A>G c.2417A>G p.Y806C RefSeq GRCh38/hg38
NM_001406774.1 chr10:g.43124885A>G c.2417A>G p.Y806C RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43119555A>G c.2417A>G p.Y806C RefSeq GRCh38/hg38
NM_020630 chr10:g.43119555A>G c.2417A>G p.Y806C RefSeq GRCh38/hg38
NM_001406771.1 chr10:g.43123724A>G c.2417A>G p.Y806C RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43119555A>G c.2417A>G p.Y806C RefSeq GRCh38/hg38
NM_001406773.1 chr10:g.43123724A>G c.2417A>G p.Y806C RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43119555A>G c.2417A>G p.Y806C RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43119555A>G c.2417A>G p.Y806C RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43119555A>G c.2417A>G p.Y806C RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RET Y806C Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, Iclusig (ponatinib) inhibited phosphorylation of Ret in transformed human cells expressing RET Y806C in culture (PMID: 23526464). 23526464