Gene Variant Detail

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Gene IKZF1
Variant R213*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions IKZF1 R213* results in a premature truncation of the Ikzf1 protein at amino acid 213 of 519 (UniProt.org). Due to the loss of multiple zinc finger domains (UniProt.org), R213* is predicted to lead to a loss of Ikzf1 protein function.
Associated Drug Resistance

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Transcript NM_006060
gDNA chr7:g.50387392C>T
cDNA c.637C>T
Protein p.R213*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011515066 chr7:g.50382695_50382696delAGinsTA c.637_638delAGinsTA p.R213* RefSeq GRCh38/hg38
XM_011515078 chr7:g.50400049_50400051delCGCinsTGA c.637_639delCGCinsTGA p.R213* RefSeq GRCh38/hg38
XM_011515069 chr7:g.50387392C>T c.637C>T p.R213* RefSeq GRCh38/hg38
XM_017011670 chr7:g.50387392C>T c.637C>T p.R213* RefSeq GRCh38/hg38
XM_011515068 chr7:g.50387392C>T c.637C>T p.R213* RefSeq GRCh38/hg38
XM_011515062 chr7:g.50382695_50382696delAGinsTA c.637_638delAGinsTA p.R213* RefSeq GRCh38/hg38
XM_011515064 chr7:g.50382695_50382696delAGinsTA c.637_638delAGinsTA p.R213* RefSeq GRCh38/hg38
NM_006060 chr7:g.50387392C>T c.637C>T p.R213* RefSeq GRCh38/hg38
XM_011515060 chr7:g.50382665_50382667delCGCinsTGA c.637_639delCGCinsTGA p.R213* RefSeq GRCh38/hg38
XM_011515065 chr7:g.50382695_50382696delAGinsTA c.637_638delAGinsTA p.R213* RefSeq GRCh38/hg38
XM_017011669 chr7:g.50387392C>T c.637C>T p.R213* RefSeq GRCh38/hg38
XM_011515063 chr7:g.50382695_50382696delAGinsTA c.637_638delAGinsTA p.R213* RefSeq GRCh38/hg38
NM_001291844 chr7:g.50400289_50400291delCGCinsTGA c.637_639delCGCinsTGA p.R213* RefSeq GRCh38/hg38

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Molecular Profile Protein Effect Treatment Approaches
IKZF1 R213* loss of function - predicted
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References