Varaico: Literature-Extracted Genetic Variants

Gene:FGFR1
Variant:p.A604T
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FGFR1

NM_023110.3:p.A604T

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

RB1 aberrations predict outcomes of immune checkpoint inhibitor combination therapy in NSCLC.

Wang Q et al.

Frontiers in Oncology, 2023

37441425 (PubMed )
Supplement: Table_3.xlsx › mutations

Digenic Inheritance of PROKR2 and WDR11 Mutations in Pituitary Stalk Interruption Syndrome.

McCormack SE et al.

The Journal of Clinical Endocrinology and Metabolism, 2017

FGFR1 mutations cause Hartsfield syndrome, the unique association of holoprosencephaly and ectrodactyly.

Simonis N et al.

Journal of Medical Genetics, 2013

PROK2/PROKR2 Signaling and Kallmann Syndrome.

Dodé C et al.

Frontiers in Endocrinology, 2013

A comparative phenotypic study of kallmann syndrome patients carrying monoallelic and biallelic mutations in the prokineticin 2 or prokineticin receptor 2 genes.

Sarfati J et al.

The Journal of Clinical Endocrinology and Metabolism, 2010

The role of prokineticins in the pathogenesis of hypogonadotropic hypogonadism.

Abreu AP et al.

Neuroendocrinology, 2010

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