Varaico: Literature-Extracted Genetic Variants

Gene:SLC22A5
Variant:p.N64I
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SLC22A5

NM_003060.4:p.N64I

Associated Papers

Pathogenic germline variants in Chinese pancreatic adenocarcinoma patients.

Yin X et al.

Nature Communications, 2025

40044664 (PubMed )
Supplement: 41467_2025_57520_MOESM5_ESM.xlsx › Supplementary_Data_2_Deleteriou

Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency.

Koleske ML et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

36343260 (PubMed )
Supplement: pnas.2210247119.sd01.xlsx › Dataset_S1

Identification of Germline Mutations in Upper Tract Urothelial Carcinoma With Suspected Lynch Syndrome.

Guan B et al.

Frontiers in Oncology, 2022

35372080 (PubMed )
Supplement: Table_6.xlsx › table_S6
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