Varaico: Literature-Extracted Genetic Variants

Gene:IKZF1
Variant:p.A152T
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IKZF1

NM_006060.6:p.A152T

Associated Papers

Gain-of-function IKZF1 variants in humans cause immune dysregulation associated with abnormal T/B cell late differentiation.

Hoshino A et al.

Science Immunology, 2022

35333544 (PubMed )
Supplement: sciimmunol.abi7160_sm.pdf

IKZF1/3 and CRL4CRBN E3 ubiquitin ligase mutations and resistance to immunomodulatory drugs in multiple myeloma.

Barrio S et al.

Haematologica, 2020

Targeted sequencing of refractory myeloma reveals a high incidence of mutations in CRBN and Ras pathway genes.

Kortüm KM et al.

Blood, 2016

UV-Associated Mutations Underlie the Etiology of MCV-Negative Merkel Cell Carcinomas.

Wong SQ et al.

Cancer Research, 2015

26627015 (PubMed )
Supplement: 00085472can151877-sup-152397_1_supp_3130424_n439px.xlsx › Supplementary_Table_S7
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."