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 L617V
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR2 L617V (also referred to as V618V from the FGFR2IIIb isoform) lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). L617V has been shown to confer resistance to Fgfr inhibitors in cell culture (PMID: 28034880), and demonstrates increased Fgfr2 kinase activity compared to wild-type in an in vitro assay (PMID: 28166054), and therefore, is predicted to lead to a gain of Fgfr2 protein function.
Associated Drug Resistance Y
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 L617V

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_000141.5
gDNA chr10:g.121496546A>C
cDNA c.1849T>G
Protein p.L617V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000141.5 chr10:g.121496546A>C c.1849T>G p.L617V RefSeq GRCh38/hg38
NM_000141 chr10:g.121496546A>C c.1849T>G p.L617V RefSeq GRCh38/hg38
XM_017015925 chr10:g.121485447G>C c.1849C>G p.L617V RefSeq GRCh38/hg38
NM_001144916.1 chr10:g.121485396G>C c.1849C>G p.L617V RefSeq GRCh38/hg38
XM_006717712 chr10:g.121485456G>C c.1849C>G p.L617V RefSeq GRCh38/hg38
XM_017015925.2 chr10:g.121485447G>C c.1849C>G p.L617V RefSeq GRCh38/hg38
XM_017015925.3 chr10:g.121485447G>C c.1849C>G p.L617V RefSeq GRCh38/hg38
XM_024447891.2 chr10:g.121485456G>C c.1849C>G p.L617V RefSeq GRCh38/hg38
NM_001144916.2 chr10:g.121485396G>C c.1849C>G p.L617V RefSeq GRCh38/hg38
NM_001144916 chr10:g.121485396G>C c.1849C>G p.L617V RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121496546A>C c.1849T>G p.L617V RefSeq GRCh38/hg38
XM_024447891.1 chr10:g.121485456G>C c.1849C>G p.L617V 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 L617V Advanced Solid Tumor predicted - sensitive Lirafugratinib Preclinical - Biochemical Actionable In a preclinical study, Lirafugratinib treatment inhibited Fgfr2 phosphorylation in cultured cells expressing FGFR2 L617V (PMID: 37270847). 37270847