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Gene | RET |
Variant | V804M |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET V804M lies within the protein kinase domain of the Ret protein (UniProt.org). V804M confers a gain of function on the Ret protein, resulting in increased kinase activity, cell transformation (PMID: 16469774), and is considered a gatekeeper due to lack of response to some inhibitors, including cabozantinib and vandetanib (PMID: 23811235, PMID: 27712045). |
Associated Drug Resistance | Y |
Category Variants Paths |
RET mutant RET act mut RET V804M RET mutant RET V804X RET V804M |
Transcript | NM_020975.6 |
gDNA | chr10:g.43119548G>A |
cDNA | c.2410G>A |
Protein | p.V804M |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406744.1 | chr10:g.43119548G>A | c.2410G>A | p.V804M | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43119548G>A | c.2410G>A | p.V804M | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43119548G>A | c.2410G>A | p.V804M | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43119548G>A | c.2410G>A | p.V804M | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43119548G>A | c.2410G>A | p.V804M | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43119548G>A | c.2410G>A | p.V804M | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43119548G>A | c.2410G>A | p.V804M | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43119548G>A | c.2410G>A | p.V804M | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43119548G>A | c.2410G>A | p.V804M | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43119548G>A | c.2410G>A | p.V804M | RefSeq | GRCh38/hg38 |
Molecular Profile | Protein Effect | Treatment Approaches |
---|---|---|
RET V804M | gain of function | RET Inhibitor |
RET C634R RET V804M | ||
RET V804M RET S904C | ||
RET V804M RET Y806C | ||
RET V804M RET E805K | ||
RET V804M RET M918T | ||
RET V804M RET G810S RET L881V RET M918T | ||
RET V804M RET G810C RET M918T | ||
RET V804M RET G810S RET M918T | ||
RET V804M RET Y806C RET M918T | ||
RET V804M RET G810S |