FGFR3 V553L - Gene Variant Detail

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Gene FGFR3
Variant V553L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR3 V553L lies within the protein kinase domain (UniProt.org). V553L has been identified in the scientific literature (PMID: 37377403), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Dec 2024).
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 V553L

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Transcript NM_000142.5
gDNA chr4:g.1805761G>C
cDNA c.1657G>C
Protein p.V553L
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.