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 V514L
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR2 V514L lies within the protein kinase domain of the Fgfr2 protein (UniProt.org). V514L has not been characterized in the scientific literature and therefore, its effect on Fgfr2 protein function is unknown (PubMed, Nov 2024).
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 V514L

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.121500847C>G
cDNA c.1540G>C
Protein p.V514L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017015920 chr10:g.121500901C>G c.1540G>C p.V514L RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121500847C>G c.1540G>C p.V514L RefSeq GRCh38/hg38
NM_001320658.1 chr10:g.121500841C>G c.1540G>C p.V514L RefSeq GRCh38/hg38
XM_006717708.4 chr10:g.121500901C>G c.1540G>C p.V514L RefSeq GRCh38/hg38
NM_000141 chr10:g.121500847C>G c.1540G>C p.V514L RefSeq GRCh38/hg38
NM_001320658 chr10:g.121500841C>G c.1540G>C p.V514L RefSeq GRCh38/hg38
XM_017015920.2 chr10:g.121500901C>G c.1540G>C p.V514L RefSeq GRCh38/hg38
XM_006717708.3 chr10:g.121500901C>G c.1540G>C p.V514L RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121500847C>G c.1540G>C p.V514L RefSeq GRCh38/hg38
XM_006717708 chr10:g.121500901C>G c.1540G>C p.V514L RefSeq GRCh38/hg38
XM_017015920.3 chr10:g.121500901C>G c.1540G>C p.V514L RefSeq GRCh38/hg38
NM_001320658.2 chr10:g.121500841C>G c.1540G>C p.V514L 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 V514L lung non-small cell carcinoma no benefit Fexagratinib Case Reports/Case Series Actionable In a Phase II trial (NLMT), AZD4547 treatment did not result in a confirmed response or durable clinical benefit in a patient with non-small cell lung cancer harboring FGFR2 V515L (corresponds to V514L in the canonical isoform (PMID: 32669708, NCT02664935). 32669708