FGFR3 A391E - Gene Variant Detail

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Gene FGFR3
Variant A391E
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR3 A391E (also referred to as A393E from the FGFR3IIIb isoform) lies within the transmembrane domain of the Fgfr3 protein (UniProt.org). A391E results in increased dimerization, ligand-independent activation of Fgfr3 in cell culture (PMID: 21536014, PMID: 23437153), increased proliferation 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 A391E

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Transcript NM_000142.5
gDNA chr4:g.1804426C>A
cDNA c.1172C>A
Protein p.A391E
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.