Gene Variant Detail

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Gene RET
Variant E805K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions RET E805K lies within the protein kinase domain of the Ret protein (UniProt.org). E805K leads to enhanced transformation ability in combination with V804M, however, demonstrates weak transformation activity upon stimulation in the long isoform, and does not result in transformation activity in response to ligand in the short isoform (PMID: 17047083), and therefore, its effect on Ret protein function is unknown.
Associated Drug Resistance
Category Variants Paths

RET mutant 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_001406770.1 chr10:g.43120174G>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_001406766.1 chr10:g.43120174G>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 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_020975 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_020975.5 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_001406767.1 chr10:g.43120174G>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_001406760.1 chr10:g.43119551G>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