Gene Variant Detail

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Gene CBL
Variant Y371H
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions CBL Y371H lies within the linker region of the Cbl protein (PMID: 20622007). Y371H results in a loss of Cbl ubiquitin ligase activity, leading to activation of FLT3, AKT, and STAT5, and transformation of cultured cells when co-expressed with FLT3 or KIT (PMID: 23696637, PMID: 20622007).
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL exon8 CBL Y371H

CBL mutant CBL inact mut CBL Y371H

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Transcript NM_005188.4
gDNA chr11:g.119278181T>C
cDNA c.1111T>C
Protein p.Y371H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005188 chr11:g.119278181T>C c.1111T>C p.Y371H RefSeq GRCh38/hg38
NM_005188.4 chr11:g.119278181T>C c.1111T>C p.Y371H RefSeq GRCh38/hg38
XM_011543057 chr11:g.119278181T>C c.1111T>C p.Y371H RefSeq GRCh38/hg38
NM_005188.3 chr11:g.119278181T>C c.1111T>C p.Y371H 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 Y371H loss of function FLT3 Inhibitor
CBL Y371H FLT3 wild-type
CBL Y371H FLT3 pos