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Gene | RET |
Variant | C618F |
Impact List | missense |
Protein Effect | gain of function - predicted |
Gene Variant Descriptions | RET C618F lies within the extracellular domain of the Ret protein (UniProt.org). C618F results in elevated basal and ligand-induced phosphorylation levels and decreased cell surface expression in culture (PMID: 30884088), and therefore, is predicted to lead to a gain of Ret protein function. |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET C618F RET mutant RET C618X RET C618F |
Transcript | NM_020975.6 |
gDNA | chr10:g.43113649G>T |
cDNA | c.1853G>T |
Protein | p.C618F |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_020975 | chr10:g.43113649G>T | c.1853G>T | p.C618F | RefSeq | GRCh38/hg38 |
NM_001406763.1 | chr10:g.43113649G>T | c.1853G>T | p.C618F | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43113649G>T | c.1853G>T | p.C618F | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43113649G>T | c.1853G>T | p.C618F | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43113649G>T | c.1853G>T | p.C618F | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43113649G>T | c.1853G>T | p.C618F | RefSeq | GRCh38/hg38 |
NM_001406765.1 | chr10:g.43113649G>T | c.1853G>T | p.C618F | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43113649G>T | c.1853G>T | p.C618F | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43113649G>T | c.1853G>T | p.C618F | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43113649G>T | c.1853G>T | p.C618F | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43113649G>T | c.1853G>T | p.C618F | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43113649G>T | c.1853G>T | p.C618F | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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