Gene Variant Detail

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Gene CBL
Variant P417A
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CBL P417A lies within the RING-finger domain of the Cbl protein (PMID: 20501843). P417A results in decreased Cbl ubiquitin ligase activity, increased cell survival, and is transforming in cell culture (PMID: 19387008).
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL exon9 CBL P417A

CBL mutant CBL inact mut CBL P417A

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Transcript NM_005188.3
gDNA chr11:g.119278531C>G
cDNA c.1249C>G
Protein p.P417A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011543057 chr11:g.119278531C>G c.1249C>G p.P417A RefSeq GRCh38/hg38
NM_005188.3 chr11:g.119278531C>G c.1249C>G p.P417A RefSeq GRCh38/hg38
NM_005188 chr11:g.119278531C>G c.1249C>G p.P417A 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
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References