SH3BP2 (NM_003023.4) sequence variants
(3BP2/CRBM/CRPM/RES4-23/FLJ42079/FLJ54978/SH3-domain binding protein 2)

Editor(s): Ernst REICHENBERGER   

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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     23 sequence variant(s) among 23

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1     2   3   4   5   6   7   8   9   10   11   12   13       SH3BP2 - NM_003023.4 2024-04-27 Flanking region UTR region Exonic region Intronic region   5' flanking X No variants X 5' UTR No variants Exon 1 X No variants Intron 1X No variants Exon 2 X No variants Intron 2X No variants Exon 3 X   F50Lfs*26   R80Q Intron 3X No variants Exon 4 X   T107M Intron 4X No variants Exon 5 X No variants Intron 5X No variants Exon 6 X   A155V Intron 6X No variants Exon 7 X No variants Intron 7X No variants Exon 8 X   G313R Intron 8X No variants Exon 9 X   R415*   R415P   R415Q   P418T   P418H   P418H   P418R   P418L   D419N   D419Y   D419G   G420R   G420R   G420E Intron 9X No variants Exon 10 X No variants Intron 10X No variants Exon 11 X   Q481L Intron 11X No variants Exon 12 X No variants Intron 12X No variants Exon 13 X   V542M   S545N   R552W 3' UTR X No variants 3' flanking X No variants