Gene Variant Detail

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Gene BCORL1
Variant E692*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions BCORL1 E692* results in a premature truncation of the Bcorl1 protein at amino acid 692 of 1711 (UniProt.org). Due to the loss of all known functional domains (UnitProt.org), E692* is predicted to lead to a loss of Bcorl1 protein function.
Associated Drug Resistance

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Transcript NM_021946
gDNA chrX:g.130014846G>T
cDNA c.2074G>T
Protein p.E692*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_005262455 chrX:g.130014846G>T c.2074G>T p.E692* RefSeq GRCh38/hg38
NM_021946 chrX:g.130014846G>T c.2074G>T p.E692* RefSeq GRCh38/hg38
XM_017029722 chrX:g.130014846G>T c.2074G>T p.E692* RefSeq GRCh38/hg38
XM_005262452 chrX:g.130014846G>T c.2074G>T p.E692* RefSeq GRCh38/hg38
XM_006724776 chrX:g.130014846G>T c.2074G>T p.E692* RefSeq GRCh38/hg38
NM_001184772 chrX:g.130014846G>T c.2074G>T p.E692* RefSeq GRCh38/hg38
XM_005262456 chrX:g.130014846G>T c.2074G>T p.E692* RefSeq GRCh38/hg38
XM_005262454 chrX:g.130014846G>T c.2074G>T p.E692* RefSeq GRCh38/hg38
XM_017029721 chrX:g.130014846G>T c.2074G>T p.E692* RefSeq GRCh38/hg38
XM_005262453 chrX:g.130014846G>T c.2074G>T p.E692* RefSeq GRCh38/hg38
XM_006724777 chrX:g.130014846G>T c.2074G>T p.E692* RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "mtor c1483f"

Sorting

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Molecular Profile Protein Effect Treatment Approaches
BCORL1 E692* loss of function - predicted
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References