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Gene | RET |
Variant | P270L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RET P270L lies within the Cadherin domain of the Ret protein (UniProt.org). P270L results in intracellular mislocalization near the endoplasmic reticulum and nucleus but phosphorylation of Ret and Erk similar to wild-type in culture (PMID: 26395553), and therefore, its effect on Ret protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET P270L |
Transcript | NM_020975.6 |
gDNA | chr10:g.43105135C>T |
cDNA | c.809C>T |
Protein | p.P270L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406763.1 | chr10:g.43105135C>T | c.809C>T | p.P270L | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43105135C>T | c.809C>T | p.P270L | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43105135C>T | c.809C>T | p.P270L | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43105135C>T | c.809C>T | p.P270L | RefSeq | GRCh38/hg38 |
NM_001406769.1 | chr10:g.43105135C>T | c.809C>T | p.P270L | RefSeq | GRCh38/hg38 |
NM_001406765.1 | chr10:g.43105135C>T | c.809C>T | p.P270L | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43105135C>T | c.809C>T | p.P270L | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43105135C>T | c.809C>T | p.P270L | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43105135C>T | c.809C>T | p.P270L | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43105135C>T | c.809C>T | p.P270L | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43105135C>T | c.809C>T | p.P270L | RefSeq | GRCh38/hg38 |
NM_001406772.1 | chr10:g.43105135C>T | c.809C>T | p.P270L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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