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 Y375C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR3 Y375C (corresponds to Y373C in the canonical isoform) lies within the transmembrane domain of the Fgfr3 protein (UniProt.org). Y375C confers a gain of function to the Fgfr3 protein as demonstrated by ligand-independent constitutive phosphorylation in vitro and transformation of cells in culture (PMID: 19749790).
Associated Drug Resistance Y
Category Variants Paths

FGFR3 mutant FGFR3 act mut FGFR3 Y375C

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_001163213.2
gDNA chr4:g.1804372A>G
cDNA c.1124A>G
Protein p.Y375C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001163213.1 chr4:g.1804372A>G c.1124A>G p.Y375C RefSeq GRCh38/hg38
XM_006713869.1 chr4:g.1804372A>G c.1124A>G p.Y375C RefSeq GRCh38/hg38
XM_006713868.1 chr4:g.1804372A>G c.1124A>G p.Y375C RefSeq GRCh38/hg38
XM_047449821.1 chr4:g.1804372A>G c.1124A>G p.Y375C RefSeq GRCh38/hg38
XM_006713868 chr4:g.1804372A>G c.1124A>G p.Y375C RefSeq GRCh38/hg38
XM_006713870.1 chr4:g.1804372A>G c.1124A>G p.Y375C RefSeq GRCh38/hg38
XM_047449820.1 chr4:g.1804372A>G c.1124A>G p.Y375C RefSeq GRCh38/hg38
XM_006713869.2 chr4:g.1804372A>G c.1124A>G p.Y375C RefSeq GRCh38/hg38
XM_006713870 chr4:g.1804372A>G c.1124A>G p.Y375C RefSeq GRCh38/hg38
XM_006713871.2 chr4:g.1804372A>G c.1124A>G p.Y375C RefSeq GRCh38/hg38
XM_006713871.1 chr4:g.1804372A>G c.1124A>G p.Y375C RefSeq GRCh38/hg38
XM_006713870.2 chr4:g.1804372A>G c.1124A>G p.Y375C RefSeq GRCh38/hg38
NM_001163213.2 chr4:g.1804372A>G c.1124A>G p.Y375C RefSeq GRCh38/hg38
XM_006713868.2 chr4:g.1804372A>G c.1124A>G p.Y375C RefSeq GRCh38/hg38
XM_006713869 chr4:g.1804372A>G c.1124A>G p.Y375C RefSeq GRCh38/hg38
XM_006713871 chr4:g.1804372A>G c.1124A>G p.Y375C RefSeq GRCh38/hg38
NM_001163213 chr4:g.1804372A>G c.1124A>G p.Y375C 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 Y375C Advanced Solid Tumor sensitive Vofatamab Preclinical - Cell culture Actionable In a preclinical study, Vofatamab (B-701) inhibited ligand-dependent proliferation of cells expressing FGFR3 Y375C in culture (PMID: 19381019). 19381019
FGFR3 Y375C urinary bladder cancer sensitive Ponatinib Preclinical Actionable In a preclinical study, Iclusig (ponatinib) inhibited Fgfr phosphorylation and cell proliferation in bladder cancer cells harboring FGFR3 Y375C in culture (PMID: 22238366). 22238366
FGFR3 Y375C urinary bladder cancer sensitive Dovitinib Preclinical Actionable In a preclinical study, Dovitinib (TKI258) inhibited cell proliferation in bladder cancer cells harboring FGFR3 Y375C in culture (PMID: 22238366). 22238366
FGFR3 Y375C urinary bladder cancer resistant Cediranib Preclinical Actionable In a preclinical study, bladder cancer cells harboring an FGFR3 Y375C mutation were resistant to growth inhibition by Cediranib (AZD-2171) in culture (PMID: 22238366). 22238366
FGFR3 Y375C urinary bladder cancer resistant Nintedanib Preclinical Actionable In a preclinical study, bladder cancer cells harboring FGFR3 Y375C were resistant to growth inhibition by Ofev (Nintedanib) in culture (PMID: 22238366). 22238366
FGFR3 Y375C urinary bladder cancer no benefit Brivanib Preclinical Actionable In a preclinical study, Brivanib (BMS-540215) did not inhibit growth of bladder cancer cells harboring FGFR3 Y375C in culture (PMID: 22238366). 22238366