Gene Variant Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, Variants, or PubMed publications.

Have questions, comments, or suggestions? - Let us know!

Email us at : ckbsupport@genomenon.com

Gene FGFR2
Variant N550S
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR2 N550S lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). N550S results in increased Fgfr2 kinase activity and enhanced cell proliferation in the presence of ligand in culture (PMID: 23908597).
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 N550S

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.

Transcript NM_022970.4
gDNA chr10:g.121498521T>C
cDNA c.1649A>G
Protein p.N550S
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001144913.1 chr10:g.121498521T>C c.1649A>G p.N550S RefSeq GRCh38/hg38
NM_001144913 chr10:g.121498521T>C c.1649A>G p.N550S RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121498521T>C c.1649A>G p.N550S RefSeq GRCh38/hg38
NM_001144914.1 chr10:g.121487992T>C c.1649A>G p.N550S RefSeq GRCh38/hg38
NM_001144914 chr10:g.121487992T>C c.1649A>G p.N550S RefSeq GRCh38/hg38
NM_001144914.1 chr10:g.121487992T>C c.1649A>G p.N550S RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121498521T>C c.1649A>G p.N550S RefSeq GRCh38/hg38
NM_001144919 chr10:g.121488064T>C c.1649A>G p.N550S RefSeq GRCh38/hg38
NM_022970 chr10:g.121498521T>C c.1649A>G p.N550S RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121498521T>C c.1649A>G p.N550S RefSeq GRCh38/hg38
NM_001144919.1 chr10:g.121488064T>C c.1649A>G p.N550S RefSeq GRCh38/hg38
NM_001144919.2 chr10:g.121488064T>C c.1649A>G p.N550S RefSeq 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.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR2 N550S Advanced Solid Tumor decreased response Dovitinib Preclinical Actionable In a preclinical study, transformed cells expressing FGFR2 N550S demonstrated a decreased response to treatment with Dovitinib (TKI258) (PMID: 23908597). 23908597
FGFR2 N550S Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, Iclusig (ponatinib) inhibited Fgfr2 phosphorylation and proliferation in transformed cells expressing FGFR2 N550S (PMID: 23908597). 23908597
FGFR2 N550S Advanced Solid Tumor decreased response PD173074 Preclinical Actionable In a preclinical study, transformed cells expressing FGFR2 N550S demonstrated a decreased response to treatment with PD173074 (PMID: 23908597). 23908597