Gene Variant Detail

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Gene IKZF1
Variant E304K
Impact List missense
Protein Effect unknown
Gene Variant Descriptions IKZF1 E304K does not lie within any known functional domains of the Ikzf1 protein (UniProt.org). E304K has been identified in the scientific literature (PMID: 30709382, PMID: 27124486), but has not been biochemically characterized and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Apr 2019).
Associated Drug Resistance

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Transcript NM_006060
gDNA chr7:g.50399977G>A
cDNA c.910G>A
Protein p.E304K
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011515068 chr7:g.50399977G>A c.910G>A p.E304K RefSeq GRCh38/hg38
XM_011515069 chr7:g.50399977G>A c.910G>A p.E304K RefSeq GRCh38/hg38
NM_001220770 chr7:g.50400394G>A c.910G>A p.E304K RefSeq GRCh38/hg38
NM_001291842 chr7:g.50400436G>A c.910G>A p.E304K RefSeq GRCh38/hg38
XM_011515067 chr7:g.50399971G>A c.910G>A p.E304K RefSeq GRCh38/hg38
NM_006060 chr7:g.50399977G>A c.910G>A p.E304K RefSeq GRCh38/hg38
XM_011515073 chr7:g.50400178G>A c.910G>A p.E304K RefSeq GRCh38/hg38
NM_001220767 chr7:g.50400268G>A c.910G>A p.E304K RefSeq GRCh38/hg38
XM_017011667 chr7:g.50400178G>A c.910G>A p.E304K 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

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
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Molecular Profile Protein Effect Treatment Approaches
IKZF1 E304K unknown
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References