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Gene RET
Variant G533C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions RET G533C lies within the extracellular domain of the Ret protein (UniProt.org). G553C results in increased Erk phosphorylation (PMID: 36166639) and Ret autophosphorylation, enhanced cell proliferation, micronuclei formation, and colony formation, decreased apoptosis and expression of thyroid-specific genes in culture (PMID: 21834681), transformation in culture (PMID: 36166639), and increased liver metastasis in mouse models (PMID: 21834681).
Associated Drug Resistance
Category Variants Paths

RET mutant RET act mut RET G533C

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Transcript NM_020975.6
gDNA chr10:g.43112173G>T
cDNA c.1597G>T
Protein p.G533C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_020975 chr10:g.43112173G>T c.1597G>T p.G533C RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43112173G>T c.1597G>T p.G533C RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43112173G>T c.1597G>T p.G533C RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43112173G>T c.1597G>T p.G533C RefSeq GRCh38/hg38
NM_001406765.1 chr10:g.43112173G>T c.1597G>T p.G533C RefSeq GRCh38/hg38
NM_001406763.1 chr10:g.43112173G>T c.1597G>T p.G533C RefSeq GRCh38/hg38
NM_020630 chr10:g.43112173G>T c.1597G>T p.G533C RefSeq GRCh38/hg38
NM_020975.5 chr10:g.43112173G>T c.1597G>T p.G533C RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43112173G>T c.1597G>T p.G533C RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43112173G>T c.1597G>T p.G533C RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43112173G>T c.1597G>T p.G533C RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43112173G>T c.1597G>T p.G533C RefSeq GRCh38/hg38

Filtering

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