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Gene | RET |
Variant | E511K |
Impact List | missense |
Protein Effect | gain of function |
Gene Variant Descriptions | RET E511K lies within the extracellular domain of the Ret protein (UniProt.org). E511K confers a gain of function to Ret as demonstrated by increased Ret and Erk phosphorylation and transformation in cultured cells (PMID: 20103606). |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET act mut RET E511K |
Transcript | NM_020975.6 |
gDNA | chr10:g.43112107G>A |
cDNA | c.1531G>A |
Protein | p.E511K |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_020630.7 | chr10:g.43112107G>A | c.1531G>A | p.E511K | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43112107G>A | c.1531G>A | p.E511K | RefSeq | GRCh38/hg38 |
NM_001406765.1 | chr10:g.43112107G>A | c.1531G>A | p.E511K | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43112107G>A | c.1531G>A | p.E511K | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43112107G>A | c.1531G>A | p.E511K | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43112107G>A | c.1531G>A | p.E511K | RefSeq | GRCh38/hg38 |
NM_001406763.1 | chr10:g.43112107G>A | c.1531G>A | p.E511K | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43112107G>A | c.1531G>A | p.E511K | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43112107G>A | c.1531G>A | p.E511K | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43112107G>A | c.1531G>A | p.E511K | RefSeq | GRCh38/hg38 |
Clinical Trial | Phase | Therapies | Title | Recruitment Status | Covered Countries | Other Countries |
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