Overview

Gene Location [1]
4p16.3
Pathways
Receptor tyrosine kinase/growth factor signaling, Kinase fusions
Variant Type
Substitution - Missense
Affected Exon Number
6
Gene
FGFR3
SIFT Prediction [3]
Deleterious
ClinVar Prediction [3]
Pathogenic

FGFR3 S249C is present in 0.43% of AACR GENIE cases, with bladder urothelial carcinoma, infiltrating renal pelvis and ureter urothelial carcinoma, urethral urothelial carcinoma, squamous cell lung carcinoma, and head and neck squamous cell carcinoma having the greatest prevalence [4].

Top Disease Cases with FGFR3 S249C

Biomarker-Directed Therapies

Significance of FGFR3 S249C in Diseases

Urothelial Carcinoma +

Bladder Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.

5. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.