FGFR3 A391V
Gene Variant Detail

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Gene FGFR3
Variant A391V
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR3 A391V lies within the transmembrane domain of the Fgfr3 protein (UniProt.org). A391V results in similar cell proliferation and viability levels as wild-type Fgfr3 (PMID: 29533785), but increased transformation activity in cultured cells (PMID: 34272467), 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 A391V

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Transcript NM_000142.5
gDNA chr4:g.1804426C>T
cDNA c.1172C>T
Protein p.A391V
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.