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 FGFR2
Variant Y375C
Impact List missense
Protein Effect gain of function
Gene Variant Descriptions FGFR2 Y375C lies within the extracellular juxtamembrane domain of the Fgfr2 protein (PMID: 17525745). Y375C results in proliferation similar to wild-type Fgfr2 in a competition assay and transformation activity similar to wild-type in cultured cells (PMID: 34272467), but constitutive phosphorylation of Fgfr2 in cell culture, activation of Mapk p38 signaling, and abnormal proliferation and differentiation in the skin and skull of transgenic mouse models (PMID: 22585574).
Associated Drug Resistance
Category Variants Paths

FGFR2 mutant FGFR2 act mut FGFR2 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_000141.5
gDNA chr10:g.121515280T>C
cDNA c.1124A>G
Protein p.Y375C
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_000141 chr10:g.121515280T>C c.1124A>G p.Y375C RefSeq GRCh38/hg38
NM_000141.5 chr10:g.121515280T>C c.1124A>G p.Y375C RefSeq GRCh38/hg38
NM_001320658.2 chr10:g.121515280T>C c.1124A>G p.Y375C RefSeq GRCh38/hg38
NM_001320658 chr10:g.121515280T>C c.1124A>G p.Y375C RefSeq GRCh38/hg38
NM_001320658.1 chr10:g.121515280T>C c.1124A>G p.Y375C RefSeq GRCh38/hg38
NM_000141.4 chr10:g.121515280T>C 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
FGFR2 Y375C Advanced Solid Tumor predicted - sensitive AZD4547 Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 Y375C were sensitive to treatment with AZD4547 in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR2 Y375C Advanced Solid Tumor predicted - sensitive Infigratinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 Y375C were sensitive to treatment with Truseltiq (infigratinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR2 Y375C Advanced Solid Tumor predicted - sensitive E7090 Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 Y375C were sensitive to treatment with E7090 in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR2 Y375C Advanced Solid Tumor predicted - sensitive Erdafitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 Y375C were sensitive to treatment with Balversa (erdafitinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR2 Y375C Advanced Solid Tumor predicted - sensitive Futibatinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 Y375C were sensitive to treatment with Lytgobi (futibatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR2 Y375C Advanced Solid Tumor predicted - sensitive Pemigatinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 Y375C were sensitive to treatment with Pemazyre (pemigatinib) in culture, demonstrating reduced cell viability (PMID: 34272467). 34272467
FGFR2 Y375C Advanced Solid Tumor predicted - resistant Dovitinib Preclinical - Cell culture Actionable In a preclinical study, cells expressing FGFR2 Y375C were resistant to treatment with Dovitinib (TKI258) in culture (PMID: 34272467). 34272467
FGFR2 Y375C salivary gland carcinoma predicted - sensitive RLY-4008 Case Reports/Case Series Actionable In a Phase I/II trial (ReFocus), RLY-4008 treatment resulted in a partial response with near complete resolution of liver metastases, and regression of lung and adrenal metastases in a patient with metastatic carcinoma of the right parotid salivary gland harboring FGFR2 Y375C (PMID: 37270847; NCT04526106). 37270847
FGFR2 Y375C salivary gland cancer predicted - sensitive Erdafitinib Case Reports/Case Series Actionable In a Phase II trial (RAGNAR), treatment with Balversa (erdafitinib) resulted in a complete response with a duration of response of 5.75 months in one patient and a partial response with a duration of response of 13.47 months in another patient, both with salivary gland cancer harboring FGFR2 Y375C (PMID: 37541273; NCT04083976). 37541273
FGFR2 Y375C lung non-squamous non-small cell carcinoma predicted - sensitive Erdafitinib Case Reports/Case Series Actionable In a Phase II trial (RAGNAR), treatment with Balversa (erdafitinib) resulted in a complete response with a duration of response of 5.59 months in a patient with non-squamous non-small cell lung cancer harboring FGFR2 Y375C (PMID: 37541273; NCT04083976). 37541273
FGFR2 Y375C endometrial cancer predicted - sensitive Erdafitinib Case Reports/Case Series Actionable In a Phase II trial (RAGNAR), treatment with Balversa (erdafitinib) resulted in a partial response with a duration of response of 6.9 months in a patient with endometrial cancer harboring FGFR2 Y375C (PMID: 37541273; NCT04083976). 37541273
FGFR2 Y375C breast cancer sensitive Futibatinib Preclinical - Cell culture Actionable In a preclinical study, Lytgobi (futibatinib) inhibited Fgfr2 signaling and viability in breast epithelial cells expressing FGFR2 Y375C in culture (PMID: 37980453). 37980453
FGFR2 Y375C breast cancer sensitive AZD4547 Preclinical - Cell culture Actionable In a preclinical study, AZD4547 inhibited viability of breast epithelial cells expressing FGFR2 Y375C in culture (PMID: 37980453). 37980453
FGFR2 Y375C breast cancer sensitive Erdafitinib Preclinical - Cell culture Actionable In a preclinical study, Balversa (erdafitinib) inhibited viability of breast epithelial cells expressing FGFR2 Y375C in culture (PMID: 37980453). 37980453
FGFR2 Y375C breast cancer sensitive Dovitinib Preclinical - Cell culture Actionable In a preclinical study, Dovitinib (TKI258) inhibited viability of breast epithelial cells expressing FGFR2 Y375C in culture (PMID: 37980453). 37980453
FGFR2 Y375C cholangiocarcinoma sensitive Futibatinib Preclinical - Cell culture Actionable In a preclinical study, Lytgobi (futibatinib) inhibited viability of a cholangiocyte cell line harboring FGFR2 Y375C in culture (PMID: 37980453). 37980453
FGFR2 Y375C breast cancer sensitive Pemigatinib Preclinical - Cell culture Actionable In a preclinical study, Pemazyre (pemigatinib) inhibited viability of breast epithelial cells expressing FGFR2 Y375C in culture (PMID: 37980453). 37980453