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Gene | RET |
Variant | P973L |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RET P973L lies within the protein kinase domain of the Ret protein (UniProt.org). P973L results in decreased Ret mRNA and protein levels and retains the ability to phosphorylate ERK in the presence of ligand in culture (PMID: 11438491), but has not been fully biochemically characterized and therefore, its effect on Ret protein function is unknown. |
Associated Drug Resistance | |
Category Variants Paths |
RET mutant RET P973L |
Transcript | NM_020975.6 |
gDNA | chr10:g.43123787C>T |
cDNA | c.2918C>T |
Protein | p.P973L |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_020975.6 | chr10:g.43123787C>T | c.2918C>T | p.P973L | RefSeq | GRCh38/hg38 |
NM_001406744.1 | chr10:g.43123787C>T | c.2918C>T | p.P973L | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43123787C>T | c.2918C>T | p.P973L | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43123787C>T | c.2918C>T | p.P973L | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43123787C>T | c.2918C>T | p.P973L | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43123787C>T | c.2918C>T | p.P973L | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43123787C>T | c.2918C>T | p.P973L | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43123787C>T | c.2918C>T | p.P973L | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43123787C>T | c.2918C>T | p.P973L | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43123787C>T | c.2918C>T | p.P973L | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
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