Gene Variant Detail

Contact

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@genomenon.com

Gene BRAF
Variant L485Y
Impact List missense
Protein Effect unknown
Gene Variant Descriptions BRAF L485Y lies within the protein kinase domain of the Braf protein (UniProt.org). L485Y has been demonstrated to confer resistance to Raf inhibition in cell culture (PMID: 19276360), but has not been biochemically characterized and therefore, its effect on Braf protein function is unknown (PubMed, Aug 2024).
Associated Drug Resistance Y
Category Variants Paths

BRAF mutant BRAF L485X BRAF L485Y

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

  • 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.

Transcript NM_004333.6
gDNA chr7:g.140778053_140778054delTGinsAT
cDNA c.1454_1455delTGinsAT
Protein p.L485Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_004333.6 chr7:g.140778053_140778054delTGinsAT c.1454_1455delTGinsAT p.L485Y RefSeq GRCh38/hg38
NM_004333.5 chr7:g.140778053_140778054delTGinsAT c.1454_1455delTGinsAT p.L485Y RefSeq GRCh38/hg38
NM_001378473.1 chr7:g.140776995_140776996delTGinsAT c.1454_1455delTGinsAT p.L485Y RefSeq GRCh38/hg38
NM_001354609.1 chr7:g.140778053_140778054delTGinsAT c.1454_1455delTGinsAT p.L485Y RefSeq GRCh38/hg38
NM_001378472.1 chr7:g.140776995_140776996delTGinsAT c.1454_1455delTGinsAT p.L485Y RefSeq GRCh38/hg38
NM_004333 chr7:g.140778053_140778054delCAinsAT c.1454_1455delTGinsAT p.L485Y RefSeq GRCh38/hg38
NM_001378474.1 chr7:g.140778053_140778054delTGinsAT c.1454_1455delTGinsAT p.L485Y RefSeq GRCh38/hg38
NM_001378468.1 chr7:g.140778053_140778054delTGinsAT c.1454_1455delTGinsAT p.L485Y RefSeq GRCh38/hg38
XM_047420769.1 chr7:g.140778053_140778054delTGinsAT c.1454_1455delTGinsAT p.L485Y RefSeq GRCh38/hg38
XM_005250045 chr7:g.140778053_140778054delCAinsAT c.1454_1455delTGinsAT p.L485Y RefSeq GRCh38/hg38
NM_001354609.2 chr7:g.140778053_140778054delTGinsAT c.1454_1455delTGinsAT p.L485Y 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

  • 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries