Varaico: Literature-Extracted Genetic Variants

Gene:FGFR1
Variant:p.D623A
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FGFR1

NM_023110.3:p.D623A

Associated Papers

Prenatal Diagnosis of Hartsfield Syndrome in the Fetus With Isolated Ectrodactyly Caused by a Novel Variant in FGFR1.

An J et al.

American Journal of Medical Genetics. Part A, 2026

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

Discriminating activating, deactivating and resistance variants in protein kinases.

Singh G et al.

Genome Medicine, 2025

41152984 (PubMed )
Supplement: 13073_2025_1564_MOESM2_ESM.xlsx › Table_S5

Endocrinological Features of Hartsfield Syndrome in an Adult Patient With a Novel Mutation of FGFR1.

Kobayashi S et al.

Journal of the Endocrine Society, 2020

Structural analysis of the mechanism of phosphorylation of a critical autoregulatory tyrosine residue in FGFR1 kinase domain.

Kobashigawa Y et al.

Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2015

Structural and dynamic insights into the energetics of activation loop rearrangement in FGFR1 kinase.

Klein T et al.

Nature Communications, 2015

NMR backbone assignments of the tyrosine kinase domain of human fibroblast growth factor receptor 1.

Vajpai N et al.

Biomolecular Nmr Assignments, 2014

Whole-genome sequencing identifies genetic alterations in pediatric low-grade gliomas.

Zhang J et al.

Nature Genetics, 2013

The precise sequence of FGF receptor autophosphorylation is kinetically driven and is disrupted by oncogenic mutations.

Lew ED et al.

Science Signaling, 2009

Protein partners in the life history of activated fibroblast growth factor receptors.

Vecchione A et al.

Proteomics, 2007

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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."