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Gene FGFR3
Variant K508M
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions FGFR3 K508M lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). K508M confers a loss of function to the Fgfr3 protein as demonstrated by induction of growth arrest in cell culture and inactivation of Stat1 in vitro (PMID: 19088846) and loss of kinase activity in the context of Fgfr3-Tacc3 (PMID: 22837387).
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 inact mut FGFR3 K508M

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Transcript NM_000142.5
gDNA chr4:g.1805465A>T
cDNA c.1523A>T
Protein p.K508M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047449824.1 chr4:g.1805465A>T c.1523A>T p.K508M RefSeq GRCh38/hg38
NM_000142 chr4:g.1805465A>T c.1523A>T p.K508M RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1805465A>T c.1523A>T p.K508M RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1805465A>T c.1523A>T p.K508M RefSeq GRCh38/hg38
XM_006713873 chr4:g.1805465A>T c.1523A>T p.K508M RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1805465A>T c.1523A>T p.K508M RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1805465A>T c.1523A>T p.K508M RefSeq GRCh38/hg38
NM_000142.5 chr4:g.1805465A>T c.1523A>T p.K508M 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

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Molecular Profile Protein Effect Treatment Approaches
FGFR3 K508M loss of function