Missing content? – Request curation!
Request curation for specific Genes, Variants, or PubMed publications.
Have questions, comments, or suggestions? - Let us know!
Email us at : ckbsupport@jax.org
Gene | RET |
Variant | L730V |
Impact List | missense |
Protein Effect | unknown |
Gene Variant Descriptions | RET L730V lies within the protein kinase domain of the Ret protein (UniProt.org). L730V has been demonstrated to confer resistance to tyrosine kinase inhibitors in the context of KIF5B-RET in culture (PMID: 29908090, PMID: 34099825), but has not been biochemically characterized and therefore, its effect on Ret protein function is unknown (PubMed, Aug 2024). |
Associated Drug Resistance | Y |
Category Variants Paths |
RET mutant RET L730V |
Transcript | NM_020975.6 |
gDNA | chr10:g.43116635C>G |
cDNA | c.2188C>G |
Protein | p.L730V |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001406744.1 | chr10:g.43116635C>G | c.2188C>G | p.L730V | RefSeq | GRCh38/hg38 |
NM_001406760.1 | chr10:g.43116635C>G | c.2188C>G | p.L730V | RefSeq | GRCh38/hg38 |
NM_001406759.1 | chr10:g.43116635C>G | c.2188C>G | p.L730V | RefSeq | GRCh38/hg38 |
NM_020630 | chr10:g.43116635C>G | c.2188C>G | p.L730V | RefSeq | GRCh38/hg38 |
NM_020975.6 | chr10:g.43116635C>G | c.2188C>G | p.L730V | RefSeq | GRCh38/hg38 |
NM_020975 | chr10:g.43116635C>G | c.2188C>G | p.L730V | RefSeq | GRCh38/hg38 |
NM_001406743.1 | chr10:g.43116635C>G | c.2188C>G | p.L730V | RefSeq | GRCh38/hg38 |
NM_001406761.1 | chr10:g.43118405C>G | c.2188C>G | p.L730V | RefSeq | GRCh38/hg38 |
NM_020630.7 | chr10:g.43116635C>G | c.2188C>G | p.L730V | RefSeq | GRCh38/hg38 |
NM_001406762.1 | chr10:g.43118405C>G | c.2188C>G | p.L730V | RefSeq | GRCh38/hg38 |
NM_020630.5 | chr10:g.43116635C>G | c.2188C>G | p.L730V | RefSeq | GRCh38/hg38 |
NM_001406764.1 | chr10:g.43118405C>G | c.2188C>G | p.L730V | RefSeq | GRCh38/hg38 |
NM_020975.5 | chr10:g.43116635C>G | c.2188C>G | p.L730V | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|