Gene Variant Detail

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Gene CBL
Variant Y371D
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions CBL Y371D lies within the linker region of the Cbl protein (UniProt.org). Y371D disrupts Cbl conformation in in vitro assays, and is transforming in cell culture (PMID: 27609087), and therefore, is predicted to lead to a loss of Cbl protein function.
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL inact mut CBL Y371D

CBL mutant CBL exon8 CBL Y371D

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Transcript NM_005188.3
gDNA chr11:g.119278181T>G
cDNA c.1111T>G
Protein p.Y371D
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005188.3 chr11:g.119278181T>G c.1111T>G p.Y371D RefSeq GRCh38/hg38
NM_005188 chr11:g.119278181T>G c.1111T>G p.Y371D RefSeq GRCh38/hg38
XM_011543057 chr11:g.119278181T>G c.1111T>G p.Y371D 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