Varaico: Literature-Extracted Genetic Variants

Gene:UPK3A
Variant:p.I119T
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UPK3A

NM_006953.4:p.I119T

Associated Papers

Apparent differences between human and chimp proteomes are reduced when considering human population: Human specific variants are enriched in disordered and compositionally biased regions.

Mier P et al.

Plos One, 2025

Insights Into the Somatic Mutation Burden of Hepatoblastomas From Brazilian Patients.

Aguiar TFM et al.

Frontiers in Oncology, 2020

32432034 (PubMed )
Supplement: Table_6.XLSX › HB46

Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.

Nava C et al.

Amino Acids, 2015

26215737 (PubMed )
Supplement: 726_2015_2057_MOESM2_ESM.xlsx › Sup_Table_3

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1045.400
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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."