Varaico: Literature-Extracted Genetic Variants

Gene:ALKBH3
Variant:p.D228E
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ALKBH3

NM_139178.4:p.D228E

Associated Papers

Integrative Computational Analysis of Common EXO5 Haplotypes: Impact on Protein Dynamics, Genome Stability, and Cancer Progression.

Mazza F et al.

Journal of Chemical Information and Modeling, 2025

40115981 (PubMed )
Supplement: ci5c00067_si_002.xlsx › scored_ALL_haplotypes_1MAF_cano

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Exome Sequencing of a Type 1 Diabetes Mellitus Family Exposes Both Common and Individualized Rare Variants Contributing to Pathogenesis.

Ibrahim TAM et al.

Journal of Diabetes Research, 2025

41376825 (PubMed )
Supplement: 3346256.f1.pdf

HAPLN3 p.T34A contributes to incomplete penetrance of moyamoya disease in Chinese carrying RNF213 p.R4810K.

Xu J et al.

European Journal of Neurology, 2024

39315749 (PubMed )
Supplement: ENE-31-e16473-s001.xlsx › Table_S2

ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.

Enyedi EE et al.

Biomedicines, 2024

38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf

Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.

Liu S et al.

Communications Biology, 2021

33907296 (PubMed )
Supplement: 42003_2021_2024_MOESM10_ESM.xlsx › Supplementary_Data_7

High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Toulmonde M et al.

Ebiomedicine, 2020

33254023 (PubMed )
Supplement: mmc5.xlsx › UPS_somatic_mutations_filtered

Integrated genomics approach to identify biologically relevant alterations in fewer samples.

Chandrani P et al.

Bmc Genomics, 2015

26572163 (PubMed )
Supplement: 12864_2015_2138_MOESM2_ESM.zip › Pratik_et_al_SI_TableS6_20150910.xlsx › Sheet1

Long-term remission after allogeneic hematopoietic stem cell transplantation in LPS-responsive beige-like anchor (LRBA) deficiency.

Seidel MG et al.

The Journal of Allergy and Clinical Immunology, 2015

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A04Y-01A.domain

Pediatric brain tumors: mutations of two dioxygenases (hABH2 and hABH3) that directly repair alkylation damage.

Cetica V et al.

Journal of Neuro-oncology, 2009

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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."