Gene Variant Detail

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Gene NPM1
Variant W288fs
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions NPM1 W288fs is a hotspot mutation that results from a 4 bp-insertion causing a frameshift at aa 288 of 294, which can result in a novel nuclear export sequence (PMID: 15659725). Other 4-bp insertions at the W288 site confer a mislocalization to the Npm1 protein, and therefore, W288fs is predicted to lead to a loss of Npm1 protein function (PMID: 15659725, PMID: 16720834).
Associated Drug Resistance

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Transcript NM_002520
gDNA chr5:g.(171410541_171410542)
cDNA c.(862_861)
Protein p.W288fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002520 chr5:g.(171410541_171410542) c.(862_861) p.W288fs RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

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Molecular Profile Protein Effect Treatment Approaches
NPM1 W288fs loss of function - predicted
DNMT3A R882H FLT3 Y599_D600insSTDNEYFYVDFREYEY NPM1 W288fs
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
NPM1 W288fs myelodysplastic syndrome not applicable N/A Guideline Prognostic NPM1 W288fs mutations are associated with poor prognosis in patients with myelodysplastic syndrome (NCCN.org). detail...