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Gene | RET |
Variant | E232K |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RET E232K lies within the cadherin domain of the Ret protein (UniProt.org). E232K has been identified in sequencing studies (PMID: 30446652), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET E232K |
Transcript | NM_020975.6 |
gDNA | chr10:g.43105020G>A |
cDNA | c.694G>A |
Protein | p.E232K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_020975.6 | chr10:g.43105020G>A | c.694G>A | p.E232K | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43105020G>A | c.694G>A | p.E232K | RefSeq | GRCh38/hg38 |
NM_001406772.1 | chr10:g.43105020G>A | c.694G>A | p.E232K | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43105020G>A | c.694G>A | p.E232K | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43105020G>A | c.694G>A | p.E232K | RefSeq | GRCh38/hg38 |
NM_001406783.1 | chr10:g.43112924G>A | c.694G>A | p.E232K | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43105020G>A | c.694G>A | p.E232K | RefSeq | GRCh38/hg38 |
NM_001406763.1 | chr10:g.43105020G>A | c.694G>A | p.E232K | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43105020G>A | c.694G>A | p.E232K | RefSeq | GRCh38/hg38 |
NM_001406765.1 | chr10:g.43105020G>A | c.694G>A | p.E232K | RefSeq | GRCh38/hg38 |
NM_001406769.1 | chr10:g.43105020G>A | c.694G>A | p.E232K | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43105020G>A | c.694G>A | p.E232K | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43105020G>A | c.694G>A | p.E232K | RefSeq | GRCh38/hg38 |
NM_001406786.1 | chr10:g.43112924G>A | c.694G>A | p.E232K | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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