FGFR3 Y375C
Gene Variant Detail

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Gene FGFR3
Variant Y375C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR3 Y375C (corresponds to Y373C in the canonical isoform) lies within the transmembrane domain of the Fgfr3 protein (UniProt.org). Y375C confers a gain of function to the Fgfr3 protein as demonstrated by ligand-independent constitutive phosphorylation in vitro and transformation of cells in culture (PMID: 19749790).
Associated Drug Resistance Y
Category Variants Paths

FGFR3 mutant FGFR3 act mut FGFR3 Y375C

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Transcript NM_001163213.2
gDNA chr4:g.1804372A>G
cDNA c.1124A>G
Protein p.Y375C
Source Database RefSeq
Genome Build 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.