Searching for mutation
Hello,
I have a gene and i want to get a list of all the mutations and variants that were described until now for this gene in cancer (or the proteine because i have some AA mutations for the proteine). I used cosmic but i want other tool or R package more reliable because i'll do the same work with other genes
Is there any tool or R package that allowed me to get the list of all the mutations for a gene rather then searching for it one by one with AA mutation positions?
Thank you
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Hello,
what do you mean by "all the mutations"? You always need a database you can ask for this question.
If you are able to do some scripting maybe the ensembl REST-Api with its overlap endpoint is something for you. E.g. this give you all somatic variants listed in COSMIC for BRCA2:
http://rest.ensembl.org/overlap/id/ENSG00000139618?feature=somatic_variation;variant_set=ph_cosmic;content-type=application/json
fin swimmer
Hello, For Example, for IDH1, we found the mutations R132H or R132S and many other mutations... So i want a tool that give me the names of all the mutations of IDH1 (for example) and their positions or the variants that were described with their identifier