Gene Variant Detail

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Gene IKZF1
Variant G43E
Impact List missense
Protein Effect unknown
Gene Variant Descriptions IKZF1 G43E does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). G43E has not been biochemically characterized however, the DNA change leads to skipping of exon 6 which results in the loss of the Zinc finger type-1 domain of the Ikzf1 protein (PMID: 29045845).
Associated Drug Resistance

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Transcript NM_006060
gDNA chr7:g.50327725G>A
cDNA c.128G>A
Protein p.G43E
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017011669 chr7:g.50327725G>A c.128G>A p.G43E RefSeq GRCh38/hg38
NM_001291839 chr7:g.50327725G>A c.128G>A p.G43E RefSeq GRCh38/hg38
NM_001220765 chr7:g.50327725G>A c.128G>A p.G43E RefSeq GRCh38/hg38
XM_011515065 chr7:g.50327725G>A c.128G>A p.G43E RefSeq GRCh38/hg38
XM_017011670 chr7:g.50327725G>A c.128G>A p.G43E RefSeq GRCh38/hg38
NM_001291841 chr7:g.50327725G>A c.128G>A p.G43E RefSeq GRCh38/hg38
XM_011515066 chr7:g.50327725G>A c.128G>A p.G43E RefSeq GRCh38/hg38
NM_001291840 chr7:g.50327725G>A c.128G>A p.G43E RefSeq GRCh38/hg38
NM_001291843 chr7:g.50327725G>A c.128G>A p.G43E RefSeq GRCh38/hg38
NM_001220770 chr7:g.50327725G>A c.128G>A p.G43E RefSeq GRCh38/hg38
XM_017011668 chr7:g.50327725G>A c.128G>A p.G43E RefSeq GRCh38/hg38
NM_001291837 chr7:g.50327725G>A c.128G>A p.G43E RefSeq GRCh38/hg38
XM_011515068 chr7:g.50327725G>A c.128G>A p.G43E RefSeq GRCh38/hg38
NM_001220767 chr7:g.50327725G>A c.128G>A p.G43E RefSeq GRCh38/hg38
NM_001220771 chr7:g.50327725G>A c.128G>A p.G43E RefSeq GRCh38/hg38
XM_011515063 chr7:g.50327725G>A c.128G>A p.G43E RefSeq GRCh38/hg38
XM_011515062 chr7:g.50327725G>A c.128G>A p.G43E RefSeq GRCh38/hg38
XM_011515075 chr7:g.50327725G>A c.128G>A p.G43E RefSeq GRCh38/hg38
NM_001291842 chr7:g.50327725G>A c.128G>A p.G43E RefSeq GRCh38/hg38
NM_001291846 chr7:g.50327725G>A c.128G>A p.G43E RefSeq GRCh38/hg38
NM_001291847 chr7:g.50327725G>A c.128G>A p.G43E RefSeq GRCh38/hg38
XM_011515076 chr7:g.50327725G>A c.128G>A p.G43E RefSeq GRCh38/hg38
XM_011515064 chr7:g.50327725G>A c.128G>A p.G43E RefSeq GRCh38/hg38
NM_001220768 chr7:g.50327725G>A c.128G>A p.G43E RefSeq GRCh38/hg38
NM_001291838 chr7:g.50327725G>A c.128G>A p.G43E RefSeq GRCh38/hg38
XM_011515073 chr7:g.50327725G>A c.128G>A p.G43E RefSeq GRCh38/hg38
NM_006060 chr7:g.50327725G>A c.128G>A p.G43E RefSeq GRCh38/hg38
NM_001291845 chr7:g.50327725G>A c.128G>A p.G43E RefSeq GRCh38/hg38
NM_001291844 chr7:g.50327725G>A c.128G>A p.G43E RefSeq GRCh38/hg38
XM_017011667 chr7:g.50327725G>A c.128G>A p.G43E RefSeq GRCh38/hg38
XM_011515069 chr7:g.50327725G>A c.128G>A p.G43E 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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  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

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 G43E unknown