Varaico: Literature-Extracted Genetic Variants

Gene:ALDH1A2
Variant:p.V348I
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ALDH1A2

NM_003888.4:p.V348I

Associated Papers

Systems-Level Integration of Multi-Omics Identifies Genetic Modifiers of TANGO2 Deficiency Disorder.

Airoldi M et al.

Biomolecules, 2025

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_

Annotation of 1350 Common Genetic Variants of the 19 ALDH Multigene Family from Global Human Genome Aggregation Database (gnomAD).

Chen CH et al.

Biomolecules, 2021

34680056 (PubMed )
Supplement: biomolecules-11-01423-s001.zip › biomolecules-1366594-supplementary.xlsx › Supplementary_Table_2

Why does SARS-CoV-2 hit in different ways? Host genetic factors can influence the acquisition or the course of COVID-19.

Monticelli M et al.

European Journal of Medical Genetics, 2021

33872774 (PubMed )
Supplement: mmc2.xlsx › Foglio1

Sequence variants with large effects on cardiac electrophysiology and disease.

Norland K et al.

Nature Communications, 2019

31641117 (PubMed )
Supplement: 41467_2019_12682_MOESM5_ESM.xlsx › Sheet1

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Takata A et al.

Nature Communications, 2019

31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM8_ESM.xlsx › Supplementary_Data_5

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › Feuil3

Japanese single nucleotide polymorphism database for 267 possible drug-related genes.

Iida A et al.

Cancer Science, 2006

[SNP collection, pharmacogenomics, and the future of drug therapy].

Iida A et al.

Gan to Kagaku Ryoho. Cancer & Chemotherapy, 2002

906 variations among 27 genes encoding cytochrome P450 (CYP) enzymes and aldehyde dehydrogenases (ALDHs) in the Japanese population.

Saito S et al.

Journal of Human Genetics, 2002

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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."