Varaico: Literature-Extracted Genetic Variants

Gene:CD5
Variant:p.A471V
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CD5

NM_014207.4:p.A471V

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

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

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl12.xlsx › Blad1

A synergetic effect of BARD1 mutations on tumorigenesis.

Li W et al.

Nature Communications, 2021

33623049 (PubMed )
Supplement: 41467_2021_21519_MOESM5_ESM.xlsx › sheet1

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

Inherited functional variants of the lymphocyte receptor CD5 influence melanoma survival.

Potrony M et al.

International Journal of Cancer, 2016

Somatic signature of brain-specific single nucleotide variations in sporadic Alzheimer's disease.

Parcerisas A et al.

Journal of Alzheimer's Disease : Jad, 2014

25024348 (PubMed )
Supplement: sj-xls-6-alz-10.3233_jad-140891.xls › P8H

Analysis of ancestral and functionally relevant CD5 variants in systemic lupus erythematosus patients.

Cenit MC et al.

Plos One, 2014

High-density genetic mapping identifies new susceptibility loci for rheumatoid arthritis.

Eyre S et al.

Nature Genetics, 2012

Evolutionary and functional evidence for positive selection at the human CD5 immune receptor gene.

Carnero-Montoro E et al.

Molecular Biology and Evolution, 2012

Interrogating 11 fast-evolving genes for signatures of recent positive selection in worldwide human populations.

Moreno-Estrada A et al.

Molecular Biology and Evolution, 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."