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 C383R
Impact List missense
Protein Effect gain of function - predicted
Gene Variant Descriptions FGFR2 C383R (corresponds to C382R in the canonical isoform) lies within the transmembrane domain of the Fgfr2 protein (UniProt.org). C383R results in Fgfr2 autophosphorylation and transformation in culture (PMID: 9136983), and therefore, is predicted to lead to a gain of Fgfr2 protein function.
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 C383R

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_022970.4
gDNA chr10:g.121515260A>G
cDNA c.1147T>C
Protein p.C383R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001144913.1 chr10:g.121515260A>G c.1147T>C p.C383R RefSeq GRCh38/hg38
NM_001144913.1 chr10:g.121515260A>G c.1147T>C p.C383R RefSeq GRCh38/hg38
NM_001144913 chr10:g.121515260A>G c.1147T>C p.C383R RefSeq GRCh38/hg38
NM_022970 chr10:g.121515260A>G c.1147T>C p.C383R RefSeq GRCh38/hg38
NM_022970.4 chr10:g.121515260A>G c.1147T>C p.C383R RefSeq GRCh38/hg38
NM_022970.3 chr10:g.121515260A>G c.1147T>C p.C383R 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 C383R endometrial cancer sensitive Fexagratinib Preclinical - Cell culture Actionable In a preclinical study, AZD4547 treatment induced cell death and reduced survival of an endometrial cancer cell line harboring FGFR2 C383R in culture (PMID: 30537101). 30537101
FGFR2 C383R endometrial cancer sensitive Infigratinib Preclinical - Cell culture Actionable In a preclinical study, Truseltiq (infigratinib) treatment induced cell death and reduced survival of an endometrial cancer cell line harboring FGFR2 C383R in culture (PMID: 30537101). 30537101
FGFR2 C383R intrahepatic cholangiocarcinoma predicted - sensitive Futibatinib Case Reports/Case Series Actionable In a Phase I trial, Lytgobi (futibatinib) treatment at a dose of 20mg led to an objective response rate of 15.6% (10/64) and a median progression-free survival of 5.1 months in patients with cholangiocarcinoma harboring FGF or FGFR 1-4 alterations, including a partial response with a progression-free survival of 9.2 months and a duration of response of 6.5 months in a patient with intrahepatic cholangiocarcinoma harboring FGFR2 C383R (PMID: 34551969; NCT02052778). 34551969
FGFR2 C383R endometrial cancer sensitive PD173074 Preclinical - Cell culture Actionable In a preclinical study, PD173074 treatment induced cell death and reduced survival of an endometrial cancer cell line harboring FGFR2 C383R in culture (PMID: 30537101). 30537101
FGFR2 C383R endometrial cancer sensitive ABT-737 + Infigratinib Preclinical - Cell culture Actionable In a preclinical study, an endometrial cancer cell line harboring FGFR2 C383R demonstrated increased cell death following treatment with Truseltiq (infigratinib) and ABT-737 combination compared to either agent alone in culture (PMID: 30537101). 30537101
FGFR2 C383R endometrial cancer sensitive ABT-737 + Fexagratinib Preclinical - Cell culture Actionable In a preclinical study, an endometrial cancer cell line harboring FGFR2 C383R demonstrated increased cell death following treatment with AZD4547 and ABT-737 combination compared to either agent alone in culture (PMID: 30537101). 30537101
FGFR2 C383R endometrial cancer sensitive ABT-737 + PD173074 Preclinical - Cell culture Actionable In a preclinical study, an endometrial cancer cell line harboring FGFR2 C383R demonstrated increased cell death following treatment with PD173074 and ABT-737 combination compared to either agent alone in culture (PMID: 30537101). 30537101
FGFR2 C383R breast cancer sensitive Lirafugratinib Preclinical - Cell culture Actionable In a preclinical study, Lirafugratinib inhibited proliferation of a breast carcinoma cell line harboring FGFR2 C383R in culture (PMID: 37270847). 37270847