Question: Searching for mutation
gravatar for nesrine.trabelsi.n
7 days ago by
nesrine.trabelsi.n0 wrote:


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

snp variant mutation R gene • 83 views
ADD COMMENTlink modified 7 days ago • written 7 days ago by nesrine.trabelsi.n0


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:;variant_set=ph_cosmic;content-type=application/json

fin swimmer

ADD REPLYlink modified 7 days ago • written 7 days ago by finswimmer4.4k

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

ADD REPLYlink written 7 days ago by nesrine.trabelsi.n0
ADD REPLYlink written 4 days ago by finswimmer4.4k
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