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 G372C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR3 G372C (corresponds to G370C in the canonical isoform) lies within the extracellular domain of the Fgfr3 protein (UniProt.org). G372C confers a gain of function on Fgfr3, as indicated by ligand-independent phosphorylation and dimerization of Fgfr3, and activation of MAPK pathway in cell culture (PMID: 16841094, PMID: 12009017).
Associated Drug Resistance
Category Variants Paths

FGFR3 mutant FGFR3 act mut FGFR3 G372C

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_022965
gDNA chr4:g.1805392G>T
cDNA c.1114G>T
Protein p.G372C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_006713869.1 chr4:g.1804362G>T c.1114G>T p.G372C RefSeq GRCh38/hg38
NM_001163213 chr4:g.1804362G>T c.1114G>T p.G372C RefSeq GRCh38/hg38
NM_001163213.1 chr4:g.1804362G>T c.1114G>T p.G372C RefSeq GRCh38/hg38
XM_006713870 chr4:g.1804362G>T c.1114G>T p.G372C RefSeq GRCh38/hg38
XM_006713871 chr4:g.1804362G>T c.1114G>T p.G372C RefSeq GRCh38/hg38
XM_006713869 chr4:g.1804362G>T c.1114G>T p.G372C RefSeq GRCh38/hg38
XM_006713868 chr4:g.1804362G>T c.1114G>T p.G372C RefSeq GRCh38/hg38
XM_006713868.1 chr4:g.1804362G>T c.1114G>T p.G372C RefSeq GRCh38/hg38
XM_006713870.1 chr4:g.1804362G>T c.1114G>T p.G372C RefSeq GRCh38/hg38
NM_022965.3 chr4:g.1805392G>T c.1114G>T p.G372C RefSeq GRCh38/hg38
NM_022965 chr4:g.1805392G>T c.1114G>T p.G372C RefSeq GRCh38/hg38
XM_006713871.1 chr4:g.1804362G>T c.1114G>T p.G372C 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 G372C Advanced Solid Tumor sensitive Vofatamab Preclinical - Cell culture Actionable In a preclinical study, Vofatamab (B-701) inhibited ligand-dependent proliferation in cells expressing FGFR3 G372C (PMID: 19381019). 19381019