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Gene | RET |
Variant | E921K |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | RET E921K lies within the protein kinase domain of the Ret protein (UniProt.org). E921K results in a loss of ligand-dependent phosphorylation of Ret and downstream signaling molecules including Erk, Akt, and PLCgamma, is not transforming in culture (PMID: 11438491), and also abolishes the function of a concurrent activating IDH1 mutation (C634R) in culture (PMID: 9502784, PMID: 17599050). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET inact mut RET E921K |
Transcript | NM_020975.6 |
gDNA | chr10:g.43121976G>A |
cDNA | c.2761G>A |
Protein | p.E921K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_020975 | chr10:g.43121976G>A | c.2761G>A | p.E921K | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43121976G>A | c.2761G>A | p.E921K | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43121976G>A | c.2761G>A | p.E921K | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43121976G>A | c.2761G>A | p.E921K | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43121976G>A | c.2761G>A | p.E921K | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43121976G>A | c.2761G>A | p.E921K | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43121976G>A | c.2761G>A | p.E921K | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43121976G>A | c.2761G>A | p.E921K | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43121976G>A | c.2761G>A | p.E921K | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43121976G>A | c.2761G>A | p.E921K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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