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Gene RET
Variant E805K
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions RET E805K lies within the protein kinase domain of the Ret protein (UniProt.org). E805K demonstrates weak transforming ability in culture (PMID: 17047083), 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 E805K

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Transcript NM_020975.6
gDNA chr10:g.43119551G>A
cDNA c.2413G>A
Protein p.E805K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_020975.5 chr10:g.43119551G>A c.2413G>A p.E805K RefSeq GRCh38/hg38
NM_001406766.1 chr10:g.43120174G>A c.2413G>A p.E805K RefSeq GRCh38/hg38
NM_001406770.1 chr10:g.43120174G>A c.2413G>A p.E805K RefSeq GRCh38/hg38
NM_001406760.1 chr10:g.43119551G>A c.2413G>A p.E805K RefSeq GRCh38/hg38
NM_001406759.1 chr10:g.43119551G>A c.2413G>A p.E805K RefSeq GRCh38/hg38
NM_020975.6 chr10:g.43119551G>A c.2413G>A p.E805K RefSeq GRCh38/hg38
NM_020630.7 chr10:g.43119551G>A c.2413G>A p.E805K RefSeq GRCh38/hg38
NM_020975 chr10:g.43119551G>A c.2413G>A p.E805K RefSeq GRCh38/hg38
NM_020630.5 chr10:g.43119551G>A c.2413G>A p.E805K RefSeq GRCh38/hg38
NM_001406744.1 chr10:g.43119551G>A c.2413G>A p.E805K RefSeq GRCh38/hg38
NM_001406743.1 chr10:g.43119551G>A c.2413G>A p.E805K RefSeq GRCh38/hg38
NM_020630 chr10:g.43119551G>A c.2413G>A p.E805K RefSeq GRCh38/hg38
NM_001406767.1 chr10:g.43120174G>A c.2413G>A p.E805K RefSeq GRCh38/hg38

Filtering

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RET V804M RET E805K thyroid gland medullary carcinoma not applicable N/A Guideline Risk Factor Compound germline RET V804M and E805K mutations result in multiple endocrine neoplasia, type 2B (MEN 2B), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org). detail...