Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.R139K
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NKX2-5

NM_004387.4:p.R139K

Associated Papers

Predicting the DNA binding specificity of transcription factor mutants using family-level biophysically interpretable machine learning.

Liu S et al.

Nucleic Acids Research, 2025

40874594 (PubMed )
Supplement: gkaf831_supplemental_files.zip › Supplement.pdf

Predicting the DNA binding specificity of transcription factor mutants using family-level biophysically interpretable machine learning.

Liu S et al.

Biorxiv : the Preprint Server for Biology, 2025

38352411 (PubMed )
Supplement: NIHPP2024.01.24.577115v2-supplement-1.pdf

DNA binding analysis of rare variants in homeodomains reveals homeodomain specificity-determining residues.

Kock KH et al.

Nature Communications, 2024

38600112 (PubMed )
Supplement: 41467_2024_47396_MOESM5_ESM.xls › variants

NKX2-5 Variant in Two Siblings with Thyroid Hemiagenesis.

Szczepanek-Parulska E et al.

International Journal of Molecular Sciences, 2022

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