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 FGFR3
Variant L608V
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR3 L608V lies within the protein kinase domain of the Fgfr3 protein (UniProt.org). L608V has been identified in the scientific literature (PMID: 28034880), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Apr 2024).
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 L608V

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_000142.5
gDNA chr4:g.1805926T>G
cDNA c.1822T>G
Protein p.L608V
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000142.5 chr4:g.1805926T>G c.1822T>G p.L608V RefSeq GRCh38/hg38
XM_006713873.1 chr4:g.1805926T>G c.1822T>G p.L608V RefSeq GRCh38/hg38
XM_006713873 chr4:g.1805926T>G c.1822T>G p.L608V RefSeq GRCh38/hg38
XM_047449823.1 chr4:g.1805926T>G c.1822T>G p.L608V RefSeq GRCh38/hg38
XM_047449824.1 chr4:g.1805926T>G c.1822T>G p.L608V RefSeq GRCh38/hg38
NM_000142 chr4:g.1805926T>G c.1822T>G p.L608V RefSeq GRCh38/hg38
XM_006713873.2 chr4:g.1805926T>G c.1822T>G p.L608V RefSeq GRCh38/hg38
NM_000142.4 chr4:g.1805926T>G c.1822T>G p.L608V 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
FGFR3 V555M FGFR3 L608V transitional cell carcinoma predicted - resistant Infigratinib Case Reports/Case Series Actionable In a clinical study, a patient with metastatic urothelial carcinoma progressed while being treated with Truseltiq (infigratinib) and subsequent cell-free DNA testing revealed FGFR3 V555M (also corresponds to V443M) and FGFR3 L608V (also corresponds to L496V) (PMID: 29848605). 29848605
FGFR3 Y373C FGFR3 N540K FGFR3 V555L FGFR3 L608V bladder urothelial carcinoma predicted - resistant Futibatinib Case Reports/Case Series Actionable In a clinical case study, FGFR3 N540K, FGFR3 V555L, and FGFR3 L608V were identified in the post-progression circulating tumor DNA of a patient with bladder urothelial carcinoma harboring FGFR3 Y373C who previously responded to Lytgobi (futibatinib) treatment (PMID: 37377403). 37377403