Gene Variant Detail

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Gene FGFR3
Variant K319del
Impact List deletion
Protein Effect no effect - predicted
Gene Variant Descriptions FGFR3 K319del results in the deletion of an amino acid in the Fgfr3 protein at amino acid 319 (UniProt.org). K319del has not been biochemically characterized, but results in similar cell proliferation and viability levels as wild-type Fgfr3 (PMID: 29533785) and therefore, is predicted to have no effect on Fgfr3 protein function.
Associated Drug Resistance

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Transcript NM_000142
gDNA chr4:g.1803716_1803718delAAG
cDNA c.955_957delAAG
Protein p.K319delK
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001163213 chr4:g.1802939_1802941delCCG c.956_958delCCG p.A319delA RefSeq GRCh38/hg38
XM_006713871 chr4:g.1802939_1802941delCCG c.956_958delCCG p.A319delA RefSeq GRCh38/hg38
XM_006713868 chr4:g.1802939_1802941delCCG c.956_958delCCG p.A319delA RefSeq GRCh38/hg38
XM_006713870 chr4:g.1802939_1802941delCCG c.956_958delCCG p.A319delA RefSeq GRCh38/hg38
XM_011513422 chr4:g.1803716_1803718delAAG c.955_957delAAG p.K319delK RefSeq GRCh38/hg38
NM_022965 chr4:g.1804849_1804851delTGA c.956_958delTGA p.M319delM RefSeq GRCh38/hg38
NM_000142 chr4:g.1803716_1803718delAAG c.955_957delAAG p.K319delK RefSeq GRCh38/hg38
XM_006713869 chr4:g.1802939_1802941delCCG c.956_958delCCG p.A319delA RefSeq GRCh38/hg38
XM_011513420 chr4:g.1803716_1803718delAAG c.955_957delAAG p.K319delK RefSeq GRCh38/hg38
XM_006713873 chr4:g.1803716_1803718delAAG c.955_957delAAG p.K319delK RefSeq GRCh38/hg38
XM_006713872 chr4:g.1803716_1803718delAAG c.955_957delAAG p.K319delK 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 )
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  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

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Molecular Profile Protein Effect Treatment Approaches
FGFR3 K319del no effect - predicted
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References