Gene Variant Detail

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Gene IKZF1
Variant S384fs
Impact List frameshift
Protein Effect unknown
Gene Variant Descriptions IKZF1 S384fs results in a change in the amino acid sequence of the Ikzf1 protein beginning at aa 384 of 519, likely resulting in premature truncation of the functional protein (UniProt.org). S384fs has not been characterized in the scientific literature and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Sep 2018).
Associated Drug Resistance

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Transcript NM_006060
gDNA chr7:g.(50400216_50400217)
cDNA c.(1150_1149)
Protein p.S384fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011515064 chr7:g.(50400156_50400157) c.(1150_1149) p.S384fs RefSeq GRCh38/hg38
XM_011515062 chr7:g.(50400156_50400157) c.(1150_1149) p.S384fs RefSeq GRCh38/hg38
XM_011515069 chr7:g.(50400216_50400217) c.(1150_1149) p.S384fs RefSeq GRCh38/hg38
XM_011515078 chr7:g.(50400561_50400562) c.(1150_1149) p.S384fs RefSeq GRCh38/hg38
XM_011515070 chr7:g.(50400270_50400271) c.(1150_1149) p.S384fs RefSeq GRCh38/hg38
XM_011515068 chr7:g.(50400216_50400217) c.(1150_1149) p.S384fs RefSeq GRCh38/hg38
XM_011515063 chr7:g.(50400156_50400157) c.(1150_1149) p.S384fs RefSeq GRCh38/hg38
XM_011515065 chr7:g.(50400156_50400157) c.(1150_1149) p.S384fs RefSeq GRCh38/hg38
XM_011515071 chr7:g.(50400345_50400346) c.(1150_1149) p.S384fs RefSeq GRCh38/hg38
XM_011515066 chr7:g.(50400156_50400157) c.(1150_1149) p.S384fs RefSeq GRCh38/hg38
NM_006060 chr7:g.(50400216_50400217) c.(1150_1149) p.S384fs 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
IKZF1 S384fs unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References