RET R833C
Gene Variant Detail

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Gene RET
Variant R833C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions RET R833C lies within the protein kinase domain of the Ret protein (UniProt.org). R833C does not result in increased invasion in culture, but confers a gain of function to Ret as demonstrated by increased tyrosine phosphorylation and transformation in cell culture, and tumor formation in a mouse model (PMID: 16469774).
Associated Drug Resistance
Category Variants Paths

RET mutant RET act mut RET R833C

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Transcript NM_020975.6
gDNA chr10:g.43119635C>T
cDNA c.2497C>T
Protein p.R833C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_020630.5 chr10:g.43119635C>T c.2497C>T p.R833C RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43119635C>T c.2497C>T p.R833C RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43119635C>T c.2497C>T p.R833C RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43119635C>T c.2497C>T p.R833C RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43119635C>T c.2497C>T p.R833C RefSeq GRCh38/hg38
NM_020975 chr10:g.43119635C>T c.2497C>T p.R833C RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43119635C>T c.2497C>T p.R833C RefSeq GRCh38/hg38
NM_020630 chr10:g.43119635C>T c.2497C>T p.R833C RefSeq GRCh38/hg38
NM_001406763.1 chr10:g.43120105_43120107delAGAinsTGT c.2497_2499delAGAinsTGT p.R833C RefSeq GRCh38/hg38
NM_001406765.1 chr10:g.43120105_43120107delAGAinsTGT c.2497_2499delAGAinsTGT p.R833C RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43119635C>T c.2497C>T p.R833C RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43119635C>T c.2497C>T p.R833C RefSeq GRCh38/hg38

Filtering

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