RBCK1 (NM_031229.4) sequence variants
(heme-oxidized IRP2 ubiquitin ligase 1, HOIL1, RBCK2, RNF54, UBCE7IP3, XAP4, ZRANB4)

Editor(s): Guilaine BOURSIER   

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How to proceed? Hide Select the type and color of the items you want to display ☞ Choose the size of police and the shape of the columns displaying the variants ☞ Reduce or not the intron length, then Apply ☞ Click above ☟ on the gene region(s) to see the variants Drag and drop the different elements as you wish in the delimited zone Screenshot / Download and cite us!

Classification Color   Status Color   Alteration Color     Pathogenic   Validated     Deletion   Police size Small Medium Large   Sort on 1 2 3 4 5 columns Likely pathogenic   Provisional     Duplication   VUS   Unsolved     Insertion   Likely benign   To be validated     Substitution   Reduce introns over px Benign   All       Delins   Unsolved           All     Not classified               All     26 sequence variant(s) among 26

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1   2   3   4   5   6   7   8   9   10   11   12       RBCK1 - NM_031229.4 2024-04-25 Flanking region UTR region Exonic region Intronic region   5' flanking X No variants X 5' UTR   c.(?_-459)_460+605del Exon 1 X No variants Intron 1X No variants Exon 2 X   A18P   L41Efs*7 Intron 2X No variants Exon 3 X No variants Intron 3X No variants Exon 4 X   N122H   p.? Intron 4X No variants Exon 5 X   G166Afs*110   Q185* Intron 5X No variants Exon 6 X   Q231Sfs*45   E235Gfs*67   A241Gfs*35   E243Gfs*58   E243* Intron 6X No variants Exon 7 X   Q264*   Q267*   L273Pfs*27   V295L   E299Vfs*46   C305F Intron 7X   c.917+3dup Exon 8 X   A319V Intron 8X No variants Exon 9 X   R352*   N387S Intron 9X No variants Exon 10 X No variants Intron 10X No variants Exon 11 X   T470S   E471K Intron 11X No variants Exon 12 X   T489Pfs*9   N508Pfs*4 3' UTR X No variants 3' flanking X No variants