Gene Variant Detail

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Gene FGFR3
Variant M528I
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR3 M528I lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). M528I results in both increased phosphorylation of Erk, Stat1, and Stat3, and autophosphorylation of Fgfr3 in culture (PMID: 25777271).
Associated Drug Resistance

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Transcript NM_000142
gDNA chr4:g.1805608G>C
cDNA c.1584G>C
Protein p.M528I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713871 chr4:g.1805602G>C c.1584G>C p.M528I RefSeq GRCh38/hg38
NM_001163213 chr4:g.1805602G>C c.1584G>C p.M528I RefSeq GRCh38/hg38
NM_000142 chr4:g.1805608G>C c.1584G>C p.M528I RefSeq GRCh38/hg38
XM_011513420 chr4:g.1805602G>C c.1584G>C p.M528I RefSeq GRCh38/hg38
XM_006713873 chr4:g.1805608G>C c.1584G>C p.M528I RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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.

Molecular Profile Protein Effect Treatment Approaches
FGFR3 M528I gain of function
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References