Gene Variant Detail

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Gene BRAF
Variant L485_T488delinsF
Impact List indel
Protein Effect gain of function - predicted
Gene Variant Descriptions BRAF L485_T488delinsF results in a deletion of four amino acids in the protein kinase domain of the Braf protein from amino acids 485 to 488, combined with the insertion of a phenylalanine (F) at the same site (UniProt.org). L485_T488delinsF has not been characterized, however, is predicted to lead to a gain of protein function due to other characterized BRAF deletions in the same region (PMID: 37656784).
Associated Drug Resistance
Category Variants Paths

BRAF mutant BRAF act mut BRAF L485_T488delinsF

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Transcript NM_004333.6
gDNA chr7:g.140778044_140778055delinsAAA
cDNA c.1453_1464delinsTTT
Protein p.L485_T488delinsF
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001378468.1 chr7:g.140778044_140778055delinsAAA c.1453_1464delinsTTT p.L485_T488delinsF RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140778044_140778055delinsAAA c.1453_1464delinsTTT p.L485_T488delinsF RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140778044_140778055delinsAAA c.1453_1464delinsTTT p.L485_T488delinsF RefSeq GRCh38/hg38
NM_004333.6 chr7:g.140778044_140778055delinsAAA c.1453_1464delinsTTT p.L485_T488delinsF RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140778044_140778055delinsAAA c.1453_1464delinsTTT p.L485_T488delinsF 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 Protein Effect Treatment Approaches
BRAF L485_T488delinsF gain of function - predicted