Gene Variant Detail

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Gene ASXL1
Variant F1305*
Impact List nonsense
Protein Effect gain of function - predicted
Gene Variant Descriptions ASXL1 F1305* results in a premature truncation of the Asxl1 protein at amino acid 1305 of 1541 (UniProt.org). F1305* results in increased catalytic activity of Bap1 as demonstrated by the loss of H2AK119 ubiquitination compared to wild-type in cultured cells (PMID: 26095772), and therefore, is predicted to lead to a gain of Asxl1 protein function.
Associated Drug Resistance

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Transcript NM_015338
gDNA chr20:g.32436626_32436627delTTinsAA
cDNA c.3914_3915delTTinsAA
Protein p.F1305*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017027705 chr20:g.32436710_32436711delTTinsAA c.3914_3915delTTinsAA p.F1305* RefSeq GRCh38/hg38
XM_006723730 chr20:g.32436710_32436711delTTinsAA c.3914_3915delTTinsAA p.F1305* RefSeq GRCh38/hg38
NM_015338 chr20:g.32436626_32436627delTTinsAA c.3914_3915delTTinsAA p.F1305* RefSeq GRCh38/hg38
XM_011528652 chr20:g.32436710_32436711delTTinsAA c.3914_3915delTTinsAA p.F1305* RefSeq GRCh38/hg38
XM_017027704 chr20:g.32436710_32436711delTTinsAA c.3914_3915delTTinsAA p.F1305* 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"

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Molecular Profile Protein Effect Treatment Approaches
ASXL1 F1305* gain of function - predicted
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References