Varaico: Literature-Extracted Genetic Variants

Gene:GALNT12
Variant:p.V290F
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GALNT12

NM_024642.5:p.V290F

Associated Papers

Hereditary variants of unknown significance in African American women with breast cancer.

McDonald JT et al.

Plos One, 2022

36315513 (PubMed )
Supplement: pone.0273835.s001.xlsx › ConsensusScores

The structure of the colorectal cancer-associated enzyme GalNAc-T12 reveals how nonconserved residues dictate its function.

Fernandez AJ et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

Evidence for GALNT12 as a moderate penetrance gene for colorectal cancer.

Evans DR et al.

Human Mutation, 2018

Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

DeRycke MS et al.

Molecular Genetics & Genomic Medicine, 2017

28944238 (PubMed )
Supplement: MGG3-5-553-s002.xlsx › ST2
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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."