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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 |
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_001406743.1 | 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_020975.6 | 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 | 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 | 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_020630.5 | 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_001406760.1 | chr10:g.43119551G>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_020630.7 | chr10:g.43119551G>A | c.2413G>A | p.E805K | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
RET E805K | unknown | RET Inhibitor |
RET V804M RET E805K |