Varaico: Literature-Extracted Genetic Variants

Gene:SMAD2
Variant:p.E150K
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SMAD2

NM_005901.6:p.E150K

Associated Papers

Modeling SMAD2 Mutations in Induced Pluripotent Stem Cells Provides Insights Into Cardiovascular Disease Pathogenesis.

Ward T et al.

Journal of the American Heart Association, 2025

40028843 (PubMed )
Supplement: JAH3-14-e036860-s001.zip › jah310667-sup-0007-Tables.xlsx › Table_S1

Prevalence and spectrum of cancer predisposition germline mutations in young patients with the common late-onset cancers.

Hao S et al.

Cancer Medicine, 2023

37610374 (PubMed )
Supplement: CAM4-12-18394-s002.xlsx › Somatic_variants

Comprehensive genomic profiling of colorectal cancer patients reveals differences in mutational landscapes among clinical and pathological subgroups.

Li P et al.

Frontiers in Oncology, 2022

36439454 (PubMed )
Supplement: DataSheet_2.pdf

Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

Temko D et al.

The Journal of Pathology, 2018

29604063 (PubMed )
Supplement: PATH-245-283-s021.xlsx › EC.Drivers.Edited
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