Varaico: Literature-Extracted Genetic Variants

Gene:BLMH
Variant:p.I443V
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BLMH

NM_000386.4:p.I443V

Associated Papers

Sustained HIV-1 remission after heterozygous CCR5Δ32 stem cell transplantation.

Gaebler C et al.

Nature, 2026

41326734 (PubMed )
Supplement: 41586_2025_9893_MOESM5_ESM.xlsx › filtered_HIV_CD4_binding_putati

Homocysteine Thiolactone Detoxifying Enzymes and Alzheimer's Disease.

Jakubowski H

International Journal of Molecular Sciences, 2024

Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.

Huang YC et al.

Journal of Personalized Medicine, 2023

37763159 (PubMed )
Supplement: jpm-13-01392-s001.zip › Supplementary_Table_S3.xlsx › Variants

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Fragoza R et al.

Nature Communications, 2019

31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM11_ESM.xlsx › SD7_-_Drug_Targets

Homocysteine Modification in Protein Structure/Function and Human Disease.

Jakubowski H

Physiological Reviews, 2019

Deep sequencing reveals the molecular pathology characteristics between primary uterine leiomyoma and pulmonary benign metastasizing leiomyoma.

Jiang J et al.

Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico, 2018

Frequency distribution of BLMH, XPO5 and HFE gene polymorphisms in the South Indian population and their association with Hodgkin Lymphoma.

Thakkar DN et al.

The International Journal of Biological Markers, 2018

Demonstration of Protein-Based Human Identification Using the Hair Shaft Proteome.

Parker GJ et al.

Plos One, 2016

27603779 (PubMed )
Supplement: pone.0160653.s004.pdf

Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Gnad F et al.

Bmc Genomics, 2013

23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › dbSNP

Integrating precision medicine in the study and clinical treatment of a severely mentally ill person.

O'Rawe JA et al.

Peerj, 2013

24109560 (PubMed )
Supplement: peerj-01-177-s010.xlsx › all_omim_evidence.csv

Part 2: pharmacogenetic variability in drug transport and phase I anticancer drug metabolism.

Deenen MJ et al.

The Oncologist, 2011

Meta-analysis of genetic variability in the beta-amyloid production, aggregation and degradation metabolic pathways and the risk of Alzheimer's disease.

Llorca J et al.

Acta Neurologica Scandinavica, 2008

Meta-analysis of genetic association studies supports a contribution of common variants to susceptibility to common disease.

Lohmueller KE et al.

Nature Genetics, 2003

Pharmacogenomics for the treatment of dementia.

Cacabelos R

Annals of Medicine, 2002

Confirmation of the association between bleomycin hydrolase genotype and Alzheimer's disease.

Papassotiropoulos A et al.

Molecular Psychiatry, 2000

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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."