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Gene RET
Variant C609R
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions RET C609R lies within the extracellular domain of the Ret protein (UniProt.org). C609R reduces cell surface Ret expression, but also results in increased Ret and Shc phosphorylation, activation of transcription in reporter assays, and is transforming in cell culture (PMID: 9879991), therefore, is predicted to lead to a gain of Ret protein function.
Associated Drug Resistance
Category Variants Paths

RET mutant RET act mut RET C609R

RET mutant RET C609X RET C609R

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Transcript NM_020975.6
gDNA chr10:g.43113621T>C
cDNA c.1825T>C
Protein p.C609R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001406744.1 chr10:g.43113621T>C c.1825T>C p.C609R RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43113621T>C c.1825T>C p.C609R RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43113621T>C c.1825T>C p.C609R RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43113621T>C c.1825T>C p.C609R RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43113621T>C c.1825T>C p.C609R RefSeq GRCh38/hg38
NM_001406763.1 chr10:g.43113621T>C c.1825T>C p.C609R RefSeq GRCh38/hg38
NM_020630 chr10:g.43113621T>C c.1825T>C p.C609R RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43113621T>C c.1825T>C p.C609R RefSeq GRCh38/hg38
NM_020975 chr10:g.43113621T>C c.1825T>C p.C609R RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43113621T>C c.1825T>C p.C609R RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43113621T>C c.1825T>C p.C609R RefSeq GRCh38/hg38
NM_001406765.1 chr10:g.43113621T>C c.1825T>C p.C609R RefSeq GRCh38/hg38

Filtering

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References