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Gene | RET |
Variant | E734K |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | RET E734K lies within the protein kinase domain of the Ret protein (UniProt.org). E734K results in a loss of phosphorylation of Ret and downstream signaling molecules including Erk1/2 and Stat3, decreased migration, colony formation, and response to GDNF-regulated apoptosis compared to wild-type Ret protein in culture (PMID: 22837065). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET inact mut RET E734K |
Transcript | NM_020975.6 |
gDNA | chr10:g.43116647G>A |
cDNA | c.2200G>A |
Protein | p.E734K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_020975.5 | chr10:g.43116647G>A | c.2200G>A | p.E734K | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43116647G>A | c.2200G>A | p.E734K | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43116647G>A | c.2200G>A | p.E734K | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43116647G>A | c.2200G>A | p.E734K | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43116647G>A | c.2200G>A | p.E734K | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43116647G>A | c.2200G>A | p.E734K | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43116647G>A | c.2200G>A | p.E734K | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43116647G>A | c.2200G>A | p.E734K | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43116647G>A | c.2200G>A | p.E734K | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43116647G>A | c.2200G>A | p.E734K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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