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 FGFR1
Variant D128Y
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR1 D128Y lies within the extracellular domain of the Fgfr1 protein (UniProt.org). D128Y has not been characterized in the scientific literature and therefore, its effect on Fgfr1 protein function is unknown (PubMed, Apr 2022).
Associated Drug Resistance

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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_023110.2
gDNA chr8:g.38428412C>A
cDNA c.382G>T
Protein p.D128Y
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_017013219.1 chr8:g.38429757C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
XM_006716304 chr8:g.38428412C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
NM_015850 chr8:g.38428412C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
NM_001174067 chr8:g.38429757C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
XM_006716306 chr8:g.38428412C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
XM_011544444.1 chr8:g.38429757C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
XM_017013223 chr8:g.38428412C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
XM_017013224 chr8:g.38428412C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
XM_017013224.2 chr8:g.38428412C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
NM_023110 chr8:g.38428412C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
XM_017013219 chr8:g.38429757C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
XM_006716307 chr8:g.38428412C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
XM_017013225 chr8:g.38428412C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
NM_015850.3 chr8:g.38428412C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
XM_011544447 chr8:g.38429757C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
XM_017013231 chr8:g.38429757C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
XM_017013231.1 chr8:g.38429757C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
XM_006716304.1 chr8:g.38428412C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
XM_011544452.2 chr8:g.38429757C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
XM_011544443.2 chr8:g.38429757C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
XM_011544445 chr8:g.38429757C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
XM_011544443 chr8:g.38429757C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
XM_011544452 chr8:g.38429757C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
NM_001354367.1 chr8:g.38428412C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
XM_017013222 chr8:g.38428412C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
NM_001354369.1 chr8:g.38428412C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
XM_011544446.2 chr8:g.38429757C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
NM_001174063.1 chr8:g.38428412C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
NM_001174067.1 chr8:g.38429757C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
XM_011544444 chr8:g.38429757C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
XM_017013222.2 chr8:g.38428412C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
NM_001174063 chr8:g.38428412C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
XM_017013225.2 chr8:g.38428412C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
XM_006716307.1 chr8:g.38428412C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
XM_011544445.2 chr8:g.38429757C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
XM_017013220.1 chr8:g.38429757C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
NM_023110.2 chr8:g.38428412C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
XM_017013220 chr8:g.38429757C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
XM_006716303.3 chr8:g.38428412C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
XM_011544446 chr8:g.38429757C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
XM_017013221 chr8:g.38428412C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
NM_001174065.1 chr8:g.38428412C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
NM_001174065 chr8:g.38428412C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
XM_011544447.2 chr8:g.38429757C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
XM_017013221.1 chr8:g.38428412C>A c.382G>T p.D128Y RefSeq GRCh38/hg38
XM_006716303 chr8:g.38428412C>A c.382G>T p.D128Y RefSeq GRCh38/hg38

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (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 a longer phrase which contains spaces "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
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR1 mutant Advanced Solid Tumor predicted - sensitive Debio 1347 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
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 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...
Molecular Profile Protein Effect Treatment Approaches
FGFR1 D128Y unknown