Gene Variant Detail

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Gene CBL
Variant D501H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CBL D501H lies within the region of the Cbl protein required for ubiquitination of SPRED2 (UniProt.org). D501H has not been characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL D501H

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Transcript NM_005188.4
gDNA chr11:g.119285038G>C
cDNA c.1501G>C
Protein p.D501H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_005188.3 chr11:g.119285038G>C c.1501G>C p.D501H RefSeq GRCh38/hg38
NM_005188.4 chr11:g.119285038G>C c.1501G>C p.D501H RefSeq GRCh38/hg38
NM_005188 chr11:g.119285038G>C c.1501G>C p.D501H 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 D501H unknown