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.220C>T p.Arg74Trp R74W exon 3 C to T at 352 Arg to Trp at 74
c.2203delA p.Arg735GlyfsX4 2335delA exon 14 deletion of A at 2335 frameshift
c.2204G>A p.Arg735Lys R735K exon 14 G to A at 2336 Arg to Lys at 735
c.4426C>T p.Gln1476X Q1476X exon 27 C to T at 4558 Gln to Stop at 1476
c.4426C>T p.Gln1476X Q1476X exon 27 C to T at 4558 Gln to Stop at 1476




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The Database was last updated at Apr 25, 2011