Gene Variant Detail

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Gene BRAF
Variant D594Y
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRAF D594Y lies within the protein kinase domain of the Braf protein (UniProt.org). D594Y has been identified in sequencing studies (PMID: 29106415, PMID: 28486044, PMID: 32913992), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF D594X BRAF D594Y

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Transcript NM_004333.6
gDNA chr7:g.140753355C>A
cDNA c.1780G>T
Protein p.D594Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001354609.2 chr7:g.140753355C>A c.1780G>T p.D594Y RefSeq GRCh38/hg38
NM_004333 chr7:g.140753355C>A c.1780G>T p.D594Y RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140753355C>A c.1780G>T p.D594Y RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140753355C>A c.1780G>T p.D594Y RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140753355C>A c.1780G>T p.D594Y RefSeq GRCh38/hg38
XM_005250045 chr7:g.140753355C>A c.1780G>T p.D594Y RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140753355C>A c.1780G>T p.D594Y RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140753355C>A c.1780G>T p.D594Y RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. 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 on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References