Varaico: Literature-Extracted Genetic Variants

Gene:ALDH7A1
Variant:p.K439Q
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ALDH7A1

NM_001182.5:p.K439Q

Associated Papers

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

Identifying the Molecular Drivers of Pathogenic Aldehyde Dehydrogenase Missense Mutations in Cancer and Non-Cancer Diseases.

Jessen-Howard D et al.

International Journal of Molecular Sciences, 2023

37373306 (PubMed )
Supplement: ijms-24-10157-s001.zip › aldh_base_cancer_otherdiseases_benign_supps.xlsx › aldh_base_cancer_otherdiseases_

Protein domains provide a new layer of information for classifying human variations in rare diseases.

Corcuff M et al.

Frontiers in Bioinformatics, 2023

36896423 (PubMed )
Supplement: Table1.XLSX › Supplementary_Table_1

ALDH7A1 rs12514417 polymorphism may increase ischemic stroke risk in alcohol-exposed individuals.

Lin CH et al.

Nutrition & Metabolism, 2022

Antiretroviral treatment leading to secondary trimethylaminuria: Genetic associations and successful management with riboflavin.

Scimone C et al.

Journal of Clinical Pharmacy and Therapeutics, 2021

An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Famiglietti ML et al.

Database : the Journal of Biological Databases and Curation, 2019

30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common

Proteogenomics of Malignant Melanoma Cell Lines: The Effect of Stringency of Exome Data Filtering on Variant Peptide Identification in Shotgun Proteomics.

Lobas AA et al.

Journal of Proteome Research, 2018

Sources of discordance among germ-line variant classifications in ClinVar.

Yang S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28569743 (PubMed )
Supplement: gim201760x7.xlsx › table_all_ExAC_consensus_Oct201

Proteome-wide analysis of amino acid variations that influence protein lysine acetylation.

Suo SB et al.

Journal of Proteome Research, 2013

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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."