Gene Variant Detail

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Gene CBL
Variant R420Q
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CBL R420Q lies within the RING domain of the Cbl protein (PMID: 17446348). R420Q results in impaired internalization, ubiquitination, and degradation of Egfr and decreased inhibition of Erk1/2 phosphorylation (PMID: 25178484), and disrupts Cbl ubiquitin ligase activity, leading to activation of Flt3 signaling, and is transforming in cell culture in the presence of Flt3 (PMID: 17446348).
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL exon9 CBL R420Q

CBL mutant CBL inact mut CBL R420Q

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Transcript NM_005188.4
gDNA chr11:g.119278541G>A
cDNA c.1259G>A
Protein p.R420Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005188.3 chr11:g.119278541G>A c.1259G>A p.R420Q RefSeq GRCh38/hg38
NM_005188.4 chr11:g.119278541G>A c.1259G>A p.R420Q RefSeq GRCh38/hg38
XM_011543057 chr11:g.119278541G>A c.1259G>A p.R420Q RefSeq GRCh38/hg38
NM_005188 chr11:g.119278541G>A c.1259G>A p.R420Q 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.

Molecular Profile Protein Effect Treatment Approaches
CBL R420Q loss of function FLT3 Inhibitor