Gene Variant Detail

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Gene FBXW7
Variant S86L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FBXW7 S86L does not lie within any known functional domains of the Fbxw7 protein (UniProt.org). S86L has been identified in sequencing studies (PMID: 30503610, PMID: 31401123), but has not been biochemically characterized and therefore, its effect on Fbxw7 protein function is unknown (PubMed, Feb 2020).
Associated Drug Resistance

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Transcript NM_033632
gDNA chr4:g.152411547G>A
cDNA c.257C>T
Protein p.S86L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_033632 chr4:g.152411547G>A c.257C>T p.S86L RefSeq GRCh38/hg38
XM_011532084 chr4:g.152411547G>A c.257C>T p.S86L RefSeq GRCh38/hg38
XM_011532083 chr4:g.152411547G>A c.257C>T p.S86L RefSeq GRCh38/hg38
NM_001257069 chr4:g.152411547G>A c.257C>T p.S86L RefSeq GRCh38/hg38
XM_017008362 chr4:g.152411547G>A c.257C>T p.S86L RefSeq GRCh38/hg38
XM_011532085 chr4:g.152411547G>A c.257C>T p.S86L 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"

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FBXW7 mutant Her2-receptor negative breast cancer predicted - sensitive LY3039478 Phase I Actionable In a Phase I trial, LY3039478 treatment resulted in partial response lasted 9.5 months in a patient with hormone receptor-positive, Erbb2 (Her2)-negative breast cancer harboring FBXW7 mutation (PMID: 30060061; NCT01695005). 30060061
Molecular Profile Protein Effect Treatment Approaches
FBXW7 S86L unknown