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 L618M
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR2 L618M (corresponds to L617M in the canonical isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). L618M results in increased Fgfr2 kinase activity, enhanced cell proliferation in the presence of ligand in culture (PMID: 23908597), and elevated kinase activity compared to wild-type Fgfr2 protein in substrate phosphorylation assays (PMID: 28166054).
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 L618M

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.121496546A>T
cDNA c.1852T>A
Protein p.L618M
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001144913 chr10:g.121496546A>T c.1852T>A p.L618M RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121496546A>T c.1852T>A p.L618M RefSeq GRCh38/hg38
XM_017015925.3 chr10:g.121485444G>T c.1852C>A p.L618M RefSeq GRCh38/hg38
XM_017015925 chr10:g.121485444G>T c.1852C>A p.L618M RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121496546A>T c.1852T>A p.L618M RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121496546A>T c.1852T>A p.L618M RefSeq GRCh38/hg38
NM_022970 chr10:g.121496546A>T c.1852T>A p.L618M RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121496546A>T c.1852T>A p.L618M RefSeq GRCh38/hg38
XM_017015925.2 chr10:g.121485444G>T c.1852C>A p.L618M 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 L618M Advanced Solid Tumor decreased response Dovitinib Preclinical Actionable In a preclinical study, transformed cells expressing FGFR2 L618M demonstrated a decreased response to treatment with Dovitinib (TKI258) (PMID: 23908597). 23908597
FGFR2 L618M Advanced Solid Tumor sensitive Ponatinib Preclinical Actionable In a preclinical study, transformed cells expressing FGFR2 L618M were sensitive to treatment with Iclusig (ponatinib) (PMID: 23908597). 23908597
FGFR2 L618M Advanced Solid Tumor decreased response PD173074 Preclinical Actionable In a preclinical study, transformed cells expressing FGFR2 L618M demonstrated a decreased response to treatment with PD173074 (PMID: 23908597). 23908597