Varaico: Literature-Extracted Genetic Variants

Gene:ANXA11
Variant:p.R230C
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ANXA11

NM_145868.2:p.R230C

Associated Papers

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

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

Evaluation of genetic risk, its clinical manifestation and disease management based on 18 susceptibility gene markers among West-Slavonic patients with sarcoidosis.

Kishore A et al.

Gene, 2023

Pharmacovariome scanning using whole pharmacogene resequencing coupled with deep computational analysis and machine learning for clinical pharmacogenomics.

Tafazoli A et al.

Human Genomics, 2023

Functional link between sarcoidosis-associated gene variants and quantitative levels of bronchoalveolar lavage fluid cell types.

Abo Al Hayja M et al.

Frontiers in Medicine, 2023

Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient.

Valentine H et al.

Cancer Research Communications, 2022

36643868 (PubMed )
Supplement: crc-22-0245-s07.xlsx › Variants_All_Exonic.exclude_ncR

ANXA11 rs1049550 Associates with Löfgren's Syndrome and Chronic Sarcoidosis Patients.

Karakaya B et al.

Cells, 2022

ANXA11 mutations are associated with amyotrophic lateral sclerosis-frontotemporal dementia.

Wang Y et al.

Frontiers in Neurology, 2022

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

ANXA11 mutations in ALS cause dysregulation of calcium homeostasis and stress granule dynamics.

Nahm M et al.

Science Translational Medicine, 2020

Association of TGF-β3 and ANXA11 with pulmonary sarcoidosis in Greek population.

Sikorova K et al.

Expert Review of Respiratory Medicine, 2020

Current Insights in Genetics of Sarcoidosis: Functional and Clinical Impacts.

Calender A et al.

Journal of Clinical Medicine, 2020

Novel Dominant KCNQ2 Exon 7 Partial In-Frame Duplication in a Complex Epileptic and Neurodevelopmental Delay Syndrome.

Lazo PA et al.

International Journal of Molecular Sciences, 2020

32585800 (PubMed )
Supplement: ijms-21-04447-s001.pdf

Pharmacogenomics, biomarker network, and allele frequencies in colorectal cancer.

López-Cortés A et al.

The Pharmacogenomics Journal, 2020

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

Two rare variants of the ANXA11 gene identified in Chinese patients with amyotrophic lateral sclerosis.

Liu X et al.

Neurobiology of Aging, 2019

ANXA11 mutations prevail in Chinese ALS patients with and without cognitive dementia.

Zhang K et al.

Neurology. Genetics, 2018

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 › T1

Next-Generation Sequencing Based HLA Typing: Deciphering Immunogenetic Aspects of Sarcoidosis.

Kishore A et al.

Frontiers in Genetics, 2018

30410504 (PubMed )
Supplement: Data_Sheet_1.docx

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis.

Smith BN et al.

Science Translational Medicine, 2017

Novel compound heterozygous MYO7A mutations in Moroccan families with autosomal recessive non-syndromic hearing loss.

Bakhchane A et al.

Plos One, 2017

28472130 (PubMed )
Supplement: pone.0176516.s002.xlsx › Feuil1

The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Lim CH et al.

Oncotarget, 2016

27175599 (PubMed )
Supplement: oncotarget-07-39758-s006.xlsx › TableS5

TNFA, ANXA11 and BTNL2 Polymorphisms in CVID Patients with Granulomatous Disease.

Boutboul D et al.

Journal of Clinical Immunology, 2016

Identification of Immune-Relevant Factors Conferring Sarcoidosis Genetic Risk.

Fischer A et al.

American Journal of Respiratory and Critical Care Medicine, 2015

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00010-Table_S13.xlsx › Sheet1

Granuloma genes in sarcoidosis: what is new?

Fischer A et al.

Current Opinion in Pulmonary Medicine, 2015

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Karageorgos I et al.

Human Genomics, 2015

26092435 (PubMed )
Supplement: 40246_2015_34_MOESM1_ESM.xlsx › FamilyA

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-A7-A0CG-01A.domain

Annexin A11 (ANXA11) gene polymorphisms are associated with sarcoidosis in a Han Chinese population: a case-control study.

Feng X et al.

Bmj Open, 2014

[Genetic risk profile of sarcoidosis].

Fischer A et al.

Der Internist, 2014

Annexin A11 gene polymorphism (R230C variant) and sarcoidosis in a Portuguese population.

Morais A et al.

Tissue Antigens, 2013

Association of ANXA11 genetic variation with sarcoidosis in African Americans and European Americans.

Levin AM et al.

Genes and Immunity, 2013

Fine-mapping in African-American women confirms the importance of the 10p12 locus to sarcoidosis.

Cozier YC et al.

Genes and Immunity, 2012

Functional variant ANXA11 R230C: true marker of protection and candidate disease modifier in sarcoidosis.

Mrazek F et al.

Genes and Immunity, 2011

Novel chemosensitive single-nucleotide polymorphism markers to targeted regimens in metastatic colorectal cancer.

Kim JC et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2011

A genome-wide admixture scan for ancestry-linked genes predisposing to sarcoidosis in African-Americans.

Rybicki BA et al.

Genes and Immunity, 2011

Characterisation of the sarcoidosis-associated variant of annexin A11.

Fatimathas L et al.

General Physiology and Biophysics, 2009

Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis.

Hofmann S et al.

Nature Genetics, 2008

Genome bioinformatic analysis of nonsynonymous SNPs.

Burke DF et al.

Bmc Bioinformatics, 2007

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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."