Varaico: Literature-Extracted Genetic Variants

Gene:SMAD3
Variant:p.R368Q
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SMAD3

NM_005902.4:p.R368Q

Associated Papers

Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrum.

Breen KE et al.

Npj Precision Oncology, 2025

41258420 (PubMed )
Supplement: 41698_2025_1155_MOESM2_ESM.xlsx › Table_S4-Somatic_Variants

EZH2 loss promotes gastric squamous cell carcinoma.

Zhang M et al.

Nature Communications, 2025

40595652 (PubMed )
Supplement: 41467_2025_61024_MOESM3_ESM.xlsx › mutation_gene_list

Corneal thinning and cornea guttata in patients with mutations in TGFB2.

Eghrari AO et al.

Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie, 2020

Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway.

Kang H et al.

The Journal of Experimental Medicine, 2020

SMAD2, SMAD3 and SMAD4 mutations in colorectal cancer.

Fleming NI et al.

Cancer Research, 2013

23139211 (PubMed )
Supplement: 00085472can122706-sup-t1-8_xls_117k.xls › Table_S4
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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."