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 FGFR1
Variant V396I
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR1 V396I lies within the transmembrane domain of the Fgfr1 protein (UniProt.org). V396I has not been characterized in the scientific literature and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Oct 2024).
Associated Drug Resistance
Category Variants Paths

FGFR1 mutant FGFR1 V396I

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_023110.3
gDNA chr8:g.38419631C>T
cDNA c.1186G>A
Protein p.V396I
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011544451.1 chr8:g.38417943_38417945delGTGinsATC c.1186_1188delGTGinsATC p.V396I RefSeq GRCh38/hg38
XM_006716304.1 chr8:g.38419631C>T c.1186G>A p.V396I RefSeq GRCh38/hg38
NM_001174063.2 chr8:g.38419631C>T c.1186G>A p.V396I RefSeq GRCh38/hg38
NM_023110.3 chr8:g.38419631C>T c.1186G>A p.V396I RefSeq GRCh38/hg38
NM_001174063.1 chr8:g.38419631C>T c.1186G>A p.V396I RefSeq GRCh38/hg38
XM_017013222.2 chr8:g.38419631C>T c.1186G>A p.V396I RefSeq GRCh38/hg38
XM_017013221.1 chr8:g.38419631C>T c.1186G>A p.V396I RefSeq GRCh38/hg38
XM_006716303.3 chr8:g.38419631C>T c.1186G>A p.V396I RefSeq GRCh38/hg38
XM_047421570.1 chr8:g.38419631C>T c.1186G>A p.V396I RefSeq GRCh38/hg38
NM_023110.2 chr8:g.38419631C>T c.1186G>A p.V396I RefSeq GRCh38/hg38
XM_006716303.4 chr8:g.38419631C>T c.1186G>A p.V396I RefSeq GRCh38/hg38
XM_006716304.2 chr8:g.38419631C>T c.1186G>A p.V396I RefSeq GRCh38/hg38
XM_017013221.2 chr8:g.38419631C>T c.1186G>A p.V396I 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
FGFR1 mutant Advanced Solid Tumor predicted - sensitive ICP-192 Phase I Actionable In a Phase I trial, ICP-192 (gunagratinib) was well-tolerated, and resulted in an overall response rate or 33.3% (4/12, 1 complete response, 3 partial response) and a disease control rate of 91.7% (11/12) in patients with advanced solid tumors harboring FGF/FGFR gene aberrations (J Clin Oncol 39, 2021 (suppl 15; abstr 4092); NCT03758664). detail...
FGFR1 mutant Advanced Solid Tumor predicted - sensitive Erdafitinib Case Reports/Case Series Actionable In a Phase II trial (MATCH), Balversa (erdafitinib) treatment resulted in an objective response rate of 16% (4/25), median progression-free survival of 3.6 months, and median overall survival of 11.0 months in patients with advanced solid tumors harboring FGFR1, FGFR2, or FGFR3 mutations or fusions (PMID: 38603650; NCT02465060). 38603650
FGFR1 mutant Advanced Solid Tumor sensitive Pemigatinib Preclinical - Cell line xenograft Actionable In a preclinical study, a variety of cancer cell lines harboring mutations in FGFR1, FGFR2, and/or FGFR3 demonstrated sensitivity to Pemazyre (pemigatinib) in culture and in cell line xenograft models, resulting in inhibition of tumor growth (Cancer Res 2015;75(15 Suppl):Abstract nr 771). detail...
FGFR1 mutant transitional cell carcinoma predicted - sensitive Erdafitinib Phase II Actionable In a Phase II trial, Balversa (erdafitinib) treatment resulted in an objective response rate of 42% (40/96, 3 complete response, 37 partial response) and a disease control rate of 80% in patients with metastatic or unresectable urothelial carcinoma harboring FGFR alterations (J Clin Oncol 36, 2018 (suppl; abstr 4503); NCT02365597). detail...
FGFR1 mutant Advanced Solid Tumor predicted - sensitive Zoligratinib Phase I Actionable In a Phase I trial, Debio 1347 treatment resulted in partial response in 10.5% (6/57) and stable disease in 28.1% (16/57) of patients with advanced solid tumors harboring genomic alterations of FGFR1/2/3, including amplifications, fusions, and mutations (PMID: 30745300; NCT01948297). 30745300