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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 |
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_020975.6 | 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_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_001406759.1 | 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_020630.7 | chr10:g.43112173G>T | c.1597G>T | p.G533C | RefSeq | GRCh38/hg38 |
NM_020975 | 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_001406760.1 | 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 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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