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@jax.org

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 demonstrated to confer resistance to Fgfr inhibitors in cell culture (PMID: 28034880), but has not been biochemically characterized and therefore, its effect on Fgfr3 protein function is unknown (PubMed, Feb 2020).
Associated Drug Resistance Y

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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
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 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

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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 L608V Advanced Solid Tumor sensitive Dovitinib Preclinical - Cell culture Actionable In a preclinical study, Dovitinib (TKI258) inhibited proliferation of transformed cells over expressing FGFR3 L608V in culture (PMID: 28034880). 28034880
FGFR3 L608V Advanced Solid Tumor decreased response Debio 1347 Preclinical - Cell culture Actionable In a preclinical study, transformed cells over expressing FGFR3 L608V demonstrated reduced sensitivity to Debio 1347 in culture (PMID: 28034880). 28034880
FGFR3 L608V Advanced Solid Tumor decreased response AZD4547 Preclinical - Cell culture Actionable In a preclinical study, transformed cells over expressing FGFR3 L608V demonstrated reduced sensitivity to AZD4547 in culture (PMID: 28034880). 28034880
FGFR3 L608V Advanced Solid Tumor decreased response Infigratinib Preclinical - Cell culture Actionable In a preclinical study, transformed cells over expressing FGFR3 L608V demonstrated reduced sensitivity to Infigratinib (BGJ398) in culture (PMID: 28034880). 28034880
FGFR3 L608V Advanced Solid Tumor sensitive Ponatinib Preclinical - Cell culture Actionable In a preclinical study, Iclusig (ponatinib) inhibited proliferation of transformed cells over expressing FGFR3 L608V in culture (PMID: 28034880). 28034880
FGFR3 L608V Advanced Solid Tumor sensitive LY2874455 Preclinical - Cell culture Actionable In a preclinical study, LY2874455 inhibited proliferation of transformed cells over expressing FGFR3 L608V in culture (PMID: 28034880). 28034880
FGFR3 L608V Advanced Solid Tumor sensitive FIIN-2 Preclinical - Cell culture Actionable In a preclinical study, FIIN-2 inhibited proliferation of transformed cells over expressing FGFR3 L608V in culture (PMID: 28034880). 28034880
FGFR3 V555M FGFR3 L608V transitional cell carcinoma resistant Infigratinib Case Reports/Case Series Actionable In a clinical study, a patient with metastatic urothelial carcinoma progressed while being treated with Infigratinib (BGJ398) and subsequent cell-free DNA testing revealed FGFR3 V555M (also corresponds to V443M) and FGFR3 L608V (also corresponds to L496V) (PMID: 29848605). 29848605
Molecular Profile Protein Effect Treatment Approaches
FGFR3 L608V unknown
FGFR3 V555M FGFR3 L608V