Gene Variant Detail

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Gene CBL
Variant P417H
Impact List missense
Protein Effect unknown
Gene Variant Descriptions CBL P417H lies within the RING-type zinc finger domain of the Cbl protein (UniProt.org). P417H has been identified in sequencing studies (PMID: 27011036, PMID: 23010802), but has not been biochemically characterized and therefore, its effect on Cbl protein function is unknown (PubMed, Aug 2023).
Associated Drug Resistance
Category Variants Paths

CBL mutant CBL exon9 CBL P417H

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Transcript NM_005188.4
gDNA chr11:g.119278532C>A
cDNA c.1250C>A
Protein p.P417H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011543057 chr11:g.119278532C>A c.1250C>A p.P417H RefSeq GRCh38/hg38
NM_005188 chr11:g.119278532C>A c.1250C>A p.P417H RefSeq GRCh38/hg38
NM_005188.3 chr11:g.119278532C>A c.1250C>A p.P417H RefSeq GRCh38/hg38
NM_005188.4 chr11:g.119278532C>A c.1250C>A p.P417H RefSeq GRCh38/hg38

Filtering

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  • 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")

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  • 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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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries