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
Category Variants Paths

FGFR3 mutant FGFR3 K319del

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Transcript NM_000142.4
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_000142.4 chr4:g.1803716_1803718delAAG c.955_957delAAG p.K319delK RefSeq GRCh38/hg38
XM_006713868 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
XM_006713870 chr4:g.1802939_1802941delCCG c.956_958delCCG p.A319delA RefSeq GRCh38/hg38
NM_000142 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
NM_022965 chr4:g.1804849_1804851delTGA c.956_958delTGA p.M319delM RefSeq GRCh38/hg38
NM_001163213.1 chr4:g.1802939_1802941delCCG c.956_958delCCG p.A319delA RefSeq GRCh38/hg38
XM_011513422.1 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_006713873.1 chr4:g.1803716_1803718delAAG c.955_957delAAG p.K319delK RefSeq GRCh38/hg38
NM_001354810.1 chr4:g.1803716_1803718delAAG c.955_957delAAG p.K319delK RefSeq GRCh38/hg38
NM_001163213 chr4:g.1802939_1802941delCCG c.956_958delCCG p.A319delA RefSeq GRCh38/hg38
XM_006713870.1 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_006713871 chr4:g.1802939_1802941delCCG c.956_958delCCG p.A319delA RefSeq GRCh38/hg38
NM_001354809.1 chr4:g.1803716_1803718delAAG c.955_957delAAG p.K319delK RefSeq GRCh38/hg38
XM_006713868.1 chr4:g.1802939_1802941delCCG c.956_958delCCG p.A319delA RefSeq GRCh38/hg38
XM_006713871.1 chr4:g.1802939_1802941delCCG c.956_958delCCG p.A319delA RefSeq GRCh38/hg38
XM_006713869.1 chr4:g.1802939_1802941delCCG c.956_958delCCG p.A319delA RefSeq GRCh38/hg38
XM_011513420.1 chr4:g.1803716_1803718delAAG c.955_957delAAG p.K319delK RefSeq GRCh38/hg38
NM_022965.3 chr4:g.1804849_1804851delTGA c.956_958delTGA p.M319delM RefSeq GRCh38/hg38
XM_006713872 chr4:g.1803716_1803718delAAG c.955_957delAAG p.K319delK RefSeq GRCh38/hg38

Filtering

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  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. 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 on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References