Gene Variant Detail

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Gene CBL
Variant L380P
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CBL L380P lies within the linker region of the Cbl protein (UniProt.org). L380P has been identified in the scientific literature (PMID: 19387008, PMID: 36653885, PMID: 31107544), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL exon8 CBL L380P

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Transcript NM_005188.4
gDNA chr11:g.119278209T>C
cDNA c.1139T>C
Protein p.L380P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005188 chr11:g.119278209T>C c.1139T>C p.L380P RefSeq GRCh38/hg38
NM_005188.4 chr11:g.119278209T>C c.1139T>C p.L380P RefSeq GRCh38/hg38
NM_005188.3 chr11:g.119278209T>C c.1139T>C p.L380P RefSeq GRCh38/hg38
XM_011543057 chr11:g.119278209T>C c.1139T>C p.L380P 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 L380P unknown