Varaico: Literature-Extracted Genetic Variants

Gene:FGFR1
Variant:p.S518A
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FGFR1

NM_023110.3:p.S518A

Associated Papers

Saturation mutagenesis identifies activating and resistance-inducing FGFR kinase domain mutations.

Tangermann C et al.

Nature Genetics, 2026

41361008 (PubMed )
Supplement: 41588_2025_2431_MOESM3_ESM.xlsx › S10_Screen_data_table

Nf2/FGFR1/AKT axis directs cranial neural crest-derived skull morphogenesis via collagen synthesis and trafficking.

Huang Y et al.

Jci Insight, 2025

40985890 (PubMed )
Supplement: jciinsight-10-191112-s075.pdf

Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.

Sather CL et al.

Cancer Medicine, 2023

37587851 (PubMed )
Supplement: CAM4-12-17632-s002.xlsx › S5.LowCoverageVariantsExpPanel

Signatures of functional constraint at Fgfr1a Genes in schizothoracine fishes (Pisces: Cypriniformes): The dermal skeleton variation adapted to high-altitude environments.

Guo X et al.

Integrative Zoology, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."