FGFR3 G375C
Gene Variant Detail

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Gene FGFR3
Variant G375C
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR3 G375C lies within the extracellular domain of the Fgfr3 protein (UniProt.org). G375C results in a similar dimer formation to wild-type, but demonstrates increased Fgfr3 autophosphorylation in the absence of ligand in culture (PMID: 22529939), 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 G375C

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Transcript NM_000142.5
gDNA chr4:g.1804377G>T
cDNA c.1123G>T
Protein p.G375C
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
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