Gene Variant Detail

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Gene IKZF1
Variant K116fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions IKZF1 K116fs results in a change in the amino acid sequence of the Ikzf1 protein beginning at aa 116 of 519, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known DNA binding and zinc-finger domains (UniProt.org), K116fs is predicted to lead to a loss of Ikzf1 protein function.
Associated Drug Resistance

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Transcript NM_006060
gDNA chr7:g.50376720delA
cDNA c.348delA
Protein p.K116fs*2
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017011670 chr7:g.50376720delA c.348delA p.K116fs*2 RefSeq GRCh38/hg38
NM_001220771 chr7:g.50376720delA c.348delA p.K116fs*2 RefSeq GRCh38/hg38
NM_006060 chr7:g.50376720delA c.348delA p.K116fs*2 RefSeq GRCh38/hg38
XM_011515069 chr7:g.50376720delA c.348delA p.K116fs*2 RefSeq GRCh38/hg38
XM_017011669 chr7:g.50376720delA c.348delA p.K116fs*2 RefSeq GRCh38/hg38
NM_001291837 chr7:g.50376720delA c.348delA p.K116fs*2 RefSeq GRCh38/hg38
NM_001220768 chr7:g.50376720delA c.348delA p.K116fs*2 RefSeq GRCh38/hg38
NM_001220765 chr7:g.50376720delA c.348delA p.K116fs*2 RefSeq GRCh38/hg38
NM_001291843 chr7:g.50399968_50399969insCTT c.346_347insCTT p.K116fs*2 RefSeq GRCh38/hg38
XM_011515068 chr7:g.50376720delA c.348delA p.K116fs*2 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
IKZF1 K116fs loss of function - predicted
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References