Gene Variant Detail

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Gene FGFR3
Variant H284fs
Impact List frameshift
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR3 H284fs results in a change in the amino acid sequence of the Fgfr3 protein beginning at aa 284 of 806, likely resulting in premature truncation of the functional protein (UniProt.org). H284fs results in proliferation similar to wild-type Fgfr3 in a competition assay but increased transformation activity in cultured cells (PMID: 34272467), and therefore, is predicted to lead to a gain of Fgfr3 protein function.
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 act mut FGFR3 H284fs

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Transcript NM_000142.5
gDNA chr4:g.(1801944_1801945)
cDNA c.(850_849)
Protein p.H284fs
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713873.1 chr4:g.(1801944_1801945) c.(850_849) p.H284fs RefSeq GRCh38/hg38
XM_006713870.2 chr4:g.(1801944_1801945) c.(850_849) p.H284fs RefSeq GRCh38/hg38
NM_001354810.2 chr4:g.(1801944_1801945) c.(850_849) p.H284fs RefSeq GRCh38/hg38
NM_001163213.2 chr4:g.(1801944_1801945) c.(850_849) p.H284fs RefSeq GRCh38/hg38
XM_047449821.1 chr4:g.(1801944_1801945) c.(850_849) p.H284fs RefSeq GRCh38/hg38
NM_022965.3 chr4:g.(1801944_1801945) c.(850_849) p.H284fs RefSeq GRCh38/hg38
XM_006713871.2 chr4:g.(1801944_1801945) c.(850_849) p.H284fs RefSeq GRCh38/hg38
NM_000142.5 chr4:g.(1801944_1801945) c.(850_849) p.H284fs RefSeq GRCh38/hg38
XM_006713870.1 chr4:g.(1801944_1801945) c.(850_849) p.H284fs RefSeq GRCh38/hg38
XM_011513422.1 chr4:g.(1801944_1801945) c.(850_849) p.H284fs RefSeq GRCh38/hg38
XM_006713871.1 chr4:g.(1801944_1801945) c.(850_849) p.H284fs RefSeq GRCh38/hg38
NM_001354809.1 chr4:g.(1801944_1801945) c.(850_849) p.H284fs RefSeq GRCh38/hg38
XM_006713868.2 chr4:g.(1801944_1801945) c.(850_849) p.H284fs RefSeq GRCh38/hg38
XM_006713868.1 chr4:g.(1801944_1801945) c.(850_849) p.H284fs RefSeq GRCh38/hg38
NM_001354810.1 chr4:g.(1801944_1801945) c.(850_849) p.H284fs RefSeq GRCh38/hg38
XM_011513422.2 chr4:g.(1801944_1801945) c.(850_849) p.H284fs RefSeq GRCh38/hg38
NM_022965.4 chr4:g.(1801944_1801945) c.(850_849) p.H284fs RefSeq GRCh38/hg38
XM_006713869.1 chr4:g.(1801944_1801945) c.(850_849) p.H284fs RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.(1801944_1801945) c.(850_849) p.H284fs RefSeq GRCh38/hg38
NM_000142.4 chr4:g.(1801944_1801945) c.(850_849) p.H284fs RefSeq GRCh38/hg38
XM_047449822.1 chr4:g.(1801944_1801945) c.(850_849) p.H284fs RefSeq GRCh38/hg38
XM_011513420.1 chr4:g.(1801944_1801945) c.(850_849) p.H284fs RefSeq GRCh38/hg38
XM_047449820.1 chr4:g.(1801944_1801945) c.(850_849) p.H284fs RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.(1801944_1801945) c.(850_849) p.H284fs RefSeq GRCh38/hg38
XM_006713869.2 chr4:g.(1801944_1801945) c.(850_849) p.H284fs RefSeq GRCh38/hg38
NM_001354809.2 chr4:g.(1801944_1801945) c.(850_849) p.H284fs RefSeq GRCh38/hg38
XM_011513420.2 chr4:g.(1801944_1801945) c.(850_849) p.H284fs RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.(1801944_1801945) c.(850_849) p.H284fs RefSeq GRCh38/hg38
NM_001163213.1 chr4:g.(1801944_1801945) c.(850_849) p.H284fs 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
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Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries