Gene Variant Detail

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Gene RET
Variant L790F
Impact List missense
Protein Effect unknown
Gene Variant Descriptions RET L790F lies within the protein kinase domain of the Ret protein (UniProt.org). The functional effect of L790F is conflicting, as it results in ligand-independent activation of Ret (PMID: 15184865), however, also results in similar cell proliferation and transformation activity to wild-type Ret in cell culture (PMID: 21810974), and therefore, its effect on Ret protein function is unknown.
Associated Drug Resistance

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Transcript NM_020975
gDNA chr10:g.43118458G>T
cDNA c.2370G>T
Protein p.L790F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_020975 chr10:g.43118458G>T c.2370G>T p.L790F RefSeq GRCh38/hg38
NM_020630 chr10:g.43118458G>T c.2370G>T p.L790F RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Molecular Profile Protein Effect Treatment Approaches
RET L790F unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RET L790F Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, Iclusig (ponatinib) inhibited phosphorylation of Ret in transformed human cells expressing RET L790F in culture (PMID: 23526464). 23526464
RET L790F Advanced Solid Tumor sensitive Vandetanib Preclinical Actionable In a preclinical study, Caprelsa (vandetanib) inhibited Ret autophosphorylation in transformed cells expressing RET L790F in culture (PMID: 15184865). 15184865