Varaico: Literature-Extracted Genetic Variants

Gene:ACTR1B
Variant:p.A143V
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ACTR1B

NM_005735.4:p.A143V

Associated Papers

Genome-wide association analyses of autoimmune hypothyroidism reveal autoimmune and thyroid-specific contributions and an inverse relationship with cancer risk.

Reeve MP et al.

Nature Genetics, 2026

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

Genetic regulation of human brain proteome reveals proteins implicated in psychiatric disorders.

Luo J et al.

Molecular Psychiatry, 2024

38724566 (PubMed )
Supplement: 41380_2024_2576_MOESM1_ESM.docx

Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Sebate B et al.

Plos One, 2021

33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › 8774__IV-2_

The genetic architecture of the human cerebral cortex.

Grasby KL et al.

Science (new York, N.y.), 2020

Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies.

Tey S et al.

Clinical Genetics, 2016

XomAnnotate: Analysis of Heterogeneous and Complex Exome- A Step towards Translational Medicine.

Talukder AK et al.

Plos One, 2015

25905921 (PubMed )
Supplement: pone.0123569.s008.xls › BC10_ERR166335
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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."