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Gene RET
Variant C634Y
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions RET C634Y lies within the cysteine-rich region of the Ret protein (PMID: 9230192). C634Y results in formation of covalent Ret homodimers, increased Ret phosphorylation and activation of downstream signaling, resistance to apoptosis, and is transforming in cell culture (PMID: 9230192, PMID: 10919641).
Associated Drug Resistance
Category Variants Paths

RET mutant RET C634X RET C634Y

RET mutant RET act mut RET C634Y

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Transcript NM_020975.6
gDNA chr10:g.43114501G>A
cDNA c.1901G>A
Protein p.C634Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406759.1 chr10:g.43114501G>A c.1901G>A p.C634Y RefSeq GRCh38/hg38
NM_020630 chr10:g.43114501G>A c.1901G>A p.C634Y RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43114501G>A c.1901G>A p.C634Y RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43114501G>A c.1901G>A p.C634Y RefSeq GRCh38/hg38
NM_001406783.1 chr10:g.43123796G>A c.1901G>A p.C634Y RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43114501G>A c.1901G>A p.C634Y RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43114501G>A c.1901G>A p.C634Y RefSeq GRCh38/hg38
NM_020975 chr10:g.43114501G>A c.1901G>A p.C634Y RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43114501G>A c.1901G>A p.C634Y RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43114501G>A c.1901G>A p.C634Y RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43114501G>A c.1901G>A p.C634Y RefSeq GRCh38/hg38
NM_001406786.1 chr10:g.43123796G>A c.1901G>A p.C634Y RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RET C634Y Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, Iclusig (ponatinib) inhibited proliferation of transformed cells harboring RET C634Y in culture (PMID: 23526464). 23526464
RET C634Y Advanced Solid Tumor sensitive HG-6-63-01 Preclinical Actionable In a preclinical study, HG-6-63-01 inhibited RET phosphorylation and downstream signaling and reduced proliferation of transformed cells expressing RET C634Y in culture (PMID: 26046350). 26046350
RET C634Y Advanced Solid Tumor sensitive XMD15-44 Preclinical Actionable In a preclinical study, XMD15-44 inhibited RET phosphorylation and downstream signaling and reduced proliferation of transformed cells expressing RET C634Y in culture (PMID: 26046350). 26046350
RET C634Y Advanced Solid Tumor sensitive ALW-II-41-27 Preclinical - Cell culture Actionable In a preclinical study, ALW-II-41-27 inhibited RET phosphorylation and downstream signaling, reduced proliferation of transformed cells expressing RET C634Y in culture (PMID: 26046350). 26046350
RET C634Y thyroid gland medullary carcinoma predicted - sensitive Sorafenib Case Reports/Case Series Actionable In a Phase II trial, Nexavar (sorafenib) treatment resulted in stable disease in one patient with medullary thyroid carcinoma harboring RET C634Y (PMID: 20368568; NCT00390325). 20368568