Varaico: Literature-Extracted Genetic Variants

Gene:TCN1
Variant:p.D301Y
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TCN1

NM_001062.4:p.D301Y

Associated Papers

Utilizing Genomically Targeted Molecular Data to Improve Patient-Specific Outcomes in Autism Spectrum Disorder.

Hausman-Cohen S et al.

International Journal of Molecular Sciences, 2022

Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.

Pongor LS et al.

Scientific Reports, 2020

32873813 (PubMed )
Supplement: 41598_2020_71382_MOESM6_ESM.xlsx › Hypermutating

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.

Brasil S et al.

Orphanet Journal of Rare Diseases, 2018

An integrative functional genomics framework for effective identification of novel regulatory variants in genome-phenome studies.

Zhao J et al.

Genome Medicine, 2018

29378629 (PubMed )
Supplement: 13073_2018_513_MOESM4_ESM.xlsx › Sheet1

The FUT2 secretor variant p.Trp154Ter influences serum vitamin B12 concentration via holo-haptocorrin, but not holo-transcobalamin, and is associated with haptocorrin glycosylation.

Velkova A et al.

Human Molecular Genetics, 2017

Genetic architecture of vitamin B12 and folate levels uncovered applying deeply sequenced large datasets.

Grarup N et al.

Plos Genetics, 2013

23754956 (PubMed )
Supplement: pgen.1003530.s010.pdf

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File011.xls › TypeI_
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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."