Gene Variant Detail

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Gene IKZF1
Variant A448R
Impact List missense
Protein Effect no effect - predicted
Gene Variant Descriptions IKZF1 A448R does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). A448R results in DNA binding and chromatin localization similar to wild-type Ikzf1 in cultured cells (PMID: 31057532), and therefore, is predicted to have no effect on Ikzf1 protein function.
Associated Drug Resistance

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Transcript NM_006060
gDNA chr7:g.50400409_50400410delGCinsAG
cDNA c.1342_1343delGCinsAG
Protein p.A448R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006060 chr7:g.50400409_50400410delGCinsAG c.1342_1343delGCinsAG p.A448R RefSeq GRCh38/hg38
XM_011515068 chr7:g.50400409_50400410delGCinsAG c.1342_1343delGCinsAG p.A448R RefSeq GRCh38/hg38
XM_011515069 chr7:g.50400409_50400410delGCinsAG c.1342_1343delGCinsAG p.A448R 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 Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Protein Effect Treatment Approaches
IKZF1 A448R no effect - predicted