Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene FGFR3
Variant K650M
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR3 K650M (also referred to as K652M from the FGFR3IIIb isoform) lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). K650M confers a gain of function to the Fgfr3 protein as demonstrated by ligand-dependent autophosphorylation, activation of Mapk signaling (PMID: 9857065), activation of Stat1 in kinase assays (PMID: 19088846), a growth advantage in a competition assay, and increased transformation activity in cultured cells (PMID: 34272467).
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 act mut FGFR3 K650M

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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.

Transcript NM_000142.5
gDNA chr4:g.1806163A>T
cDNA c.1949A>T
Protein p.K650M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713873 chr4:g.1806163A>T c.1949A>T p.K650M RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1806163A>T c.1949A>T p.K650M RefSeq GRCh38/hg38
XM_047449822.1 chr4:g.1806160A>T c.1949A>T p.K650M RefSeq GRCh38/hg38
NM_001354810.2 chr4:g.1806160A>T c.1949A>T p.K650M RefSeq GRCh38/hg38
XM_006713872 chr4:g.1806160A>T c.1949A>T p.K650M RefSeq GRCh38/hg38
NM_001354810.1 chr4:g.1806160A>T c.1949A>T p.K650M RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1806163A>T c.1949A>T p.K650M RefSeq GRCh38/hg38
NM_000142 chr4:g.1806163A>T c.1949A>T p.K650M RefSeq GRCh38/hg38
NM_001354809.2 chr4:g.1806160A>T c.1949A>T p.K650M RefSeq GRCh38/hg38
XM_011513422 chr4:g.1806160A>T c.1949A>T p.K650M RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1806163A>T c.1949A>T p.K650M RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1806163A>T c.1949A>T p.K650M RefSeq GRCh38/hg38
NM_001354809.1 chr4:g.1806160A>T c.1949A>T p.K650M RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1806163A>T c.1949A>T p.K650M RefSeq GRCh38/hg38
XM_011513422.1 chr4:g.1806160A>T c.1949A>T p.K650M RefSeq GRCh38/hg38
XM_011513422.2 chr4:g.1806160A>T c.1949A>T p.K650M RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1806163A>T c.1949A>T p.K650M RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • 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.

Clinical Trial Phase Therapies Title Recruitment Status Covered Countries Other Countries
NCT04972253 Phase I Infigratinib Phase I BLASST-3 Trial ((BLASST)-3) Withdrawn 0