BASIC TEXT SEARCH Select your search field from the pull-down menu, enter your search term in the adjacent window and click the "Submit Query" button. The "Mutation Names" search will look for a match in cDNA, protein, or legacy name. You can also search all fields by selecting "All Fields". For advanced search click on the "Advanced Search" button below.

Search:


SEARCH TIPS
  • Search is case insensitive.
  • Search term can consist of a whole word or part of a word e.g.
    • Searching for "551" in the Protein Name field will retrieve all mutations that alter the protein at position 551.
    • Searching for "del" in Mutation Names will retrieve all deletion mutations (but it may take awhile).


cDNA Name Protein Name Legacy Name Region Description Consequence
c.2251C>T p.Arg751Cys R751C exon 14 2383C>T
c.2380delG p.Val794CysfsX9 2512delG exon 14 Deletion of G at 2512 Frameshift
c.2519T>C p.Ile840Thr I840T exon 15 T to C at 2651 Ile to Thr at 840
c.3752G>A p.Ser1251Asn S1251N exon 23 G to A 3884 Ser to Asn at 1251
c.4251delA p.Glu1418ArgfsX14 4382delA exon 27 deletion of A at 4382 frameshift
c.2989-977_3367+248del 3121- 977_3499+ 248del2515 exon 19 - exon 20 3121- 977_3499+ 248del2515bp Large deletion removing exons 17a and 17b. Frameshift




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The Database was last updated at Apr 25, 2011