Gene Detail

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Gene Symbol IKZF1
Synonyms CVID13 | Hs.54452 | IK1 | IKAROS | LyF-1 | LYF1 | PPP1R92 | PRO0758 | ZNFN1A1
Gene Description IKZF1, IKAROS family zinc finger 1, is a zinc finger transcription factor that regulates hematopoietic differentiation and immune system development, and functions as a tumor suppressor (PMID: 24659638, PMID: 22150303). Mutations in IKZF1 are associated with acute lymphoblastic leukemia (PMID: 24659638, PMID: 22150303) and IKZF1 deletions have been observed in pediatric precursor B-cell ALL (PMID: 31076445).

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Variant Impact Protein Effect Variant Description Associated with drug Resistance
inact mut unknown loss of function IKZF1 inact mut indicates that this variant results in a loss of function of the Ikzf1 protein. However, the specific amino acid change has not been identified.
mutant unknown unknown IKZF1 mutant indicates an unspecified mutation in the IKZF1 gene.
K116fs frameshift loss of function - predicted IKZF1 K116fs results in a change in the amino acid sequence of the Ikzf1 protein beginning at aa 116 of 519, likely resulting in premature truncation of the functional protein (UniProt.org). Due to the loss of all known DNA binding and zinc-finger domains (UniProt.org), K116fs is predicted to lead to a loss of Ikzf1 protein function.
M494fs frameshift unknown IKZF1 M494fs results in a change in the amino acid sequence of the Ikzf1 protein beginning at aa 494 of 519, likely resulting in a premature truncation of the functional protein (UniProt.org). M494fs has been identified in the scientific literature (PMID: 31057532), but has not been biochemically characterized and therefore, its effect on Ikzf1 protein function is unknown (PubMed, Dec 2019).
S384fs frameshift unknown 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, May 2020).