Varaico: Literature-Extracted Genetic Variants

Gene:TTN
Variant:p.S187L
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TTN

NM_001267550.2:p.S187L

Associated Papers

ACMG-Recommended Actionable Secondary Findings from 1600 Clinical Exomes in the South Marmara Region in Turkiye.

Temel SG et al.

International Journal of Molecular Sciences, 2026

41683911 (PubMed )
Supplement: ijms-27-01491-s001.zip › ijms-4086442-supplementary.pdf

Positional distribution and conservation of major phosphorylated sites in the human kinome.

Gopalakrishnan AP et al.

Frontiers in Molecular Biosciences, 2025

40270594 (PubMed )
Supplement: Table5.xlsx › Phospho_Seq_Variants

A Genome-Wide Profiling of Glioma Patients with an IDH1 Mutation Using the Catalogue of Somatic Mutations in Cancer Database.

Pappula AL et al.

Cancers, 2021

34503108 (PubMed )
Supplement: cancers-13-04299-s001.zip › Supplemental_Tables_final.xlsx › Table_S11

Frequent somatic mutations in MAP3K5 and MAP3K9 in metastatic melanoma identified by exome sequencing.

Stark MS et al.

Nature Genetics, 2011

22197930 (PubMed )
Supplement: NIHMS340429-supplement-1.pdf
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