Varaico: Literature-Extracted Genetic Variants

Gene:SLC29A3
Variant:p.V214M
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SLC29A3

NM_018344.6:p.V214M

Associated Papers

Novel variations in the PLOD1, COL1A1, COL5A2 and COL4A1 genes related to keratoconus.

Lin Q et al.

Frontiers in Genetics, 2025

40201566 (PubMed )
Supplement: Table1.xlsx › family4

SIGMA leverages protein structural information to predict the pathogenicity of missense variants.

Zhao H et al.

Cell Reports Methods, 2024

38211594 (PubMed )
Supplement: mmc2.xlsx › Sheet1

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Pejaver V et al.

American Journal of Human Genetics, 2022

36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219

Phenotypic and Genetic Heterogeneity in a Thai Glucokinase MODY Family Reveals the Complexity of Young-Onset Diabetes.

Thewjitcharoen Y et al.

Frontiers in Endocrinology, 2021

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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."