Varaico: Literature-Extracted Genetic Variants

Gene:ARMS2
Variant:p.R38*
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ARMS2

NM_001099667.3:p.R38*

Associated Papers

Identification and functional characterization of an AMD associated c-ABL binding SNP streak within the ARMS2 gene promoter region.

Zhang PW et al.

Biorxiv : the Preprint Server for Biology, 2025

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

Polymorphic pseudogenes in the human genome - a comprehensive assessment.

Lopes-Marques M et al.

Human Genetics, 2024

39488654 (PubMed )
Supplement: 439_2024_2715_MOESM7_ESM.xlsx › Additional_table_1

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

Base-Excision Repair Mutational Signature in Two Sebaceous Carcinomas of the Eyelid.

Sangiorgi E et al.

Genes, 2023

38002998 (PubMed )
Supplement: genes-14-02055-s001.zip › SupplementaryTable2.xlsx › Foglio1

Current Views on Chr10q26 Contribution to Age-Related Macular Degeneration.

Gogna N et al.

Advances in Experimental Medicine and Biology, 2023

A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome.

Skuladottir AT et al.

Nature Communications, 2022

35332129 (PubMed )
Supplement: 41467_2022_29133_MOESM4_ESM.xlsx › Supp._Data_1

Ongoing controversies and recent insights of the ARMS2-HTRA1 locus in age-related macular degeneration.

May A et al.

Experimental Eye Research, 2021

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S5-Hom-PTVs

Introducing the first whole genomes of nationals from the United Arab Emirates.

AlSafar HS et al.

Scientific Reports, 2019

31604968 (PubMed )
Supplement: 41598_2019_50876_MOESM2_ESM.xlsx › UAE_S002

Association of coding and UTR variants in the known regions with wet age-related macular degeneration in Han Chinese population.

Huang L et al.

Journal of Human Genetics, 2018

Bringing the age-related macular degeneration high-risk allele age-related maculopathy susceptibility 2 into focus with stem cell technology.

Sun S et al.

Stem Cell Research & Therapy, 2017

Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration.

Grassmann F et al.

Genetics, 2017

Next-generation sequencing analysis of the ARMS2 gene in Turkish exudative age-related macular degeneration patients.

Bardak H et al.

Genetics and Molecular Research : Gmr, 2017

Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.

Roberts L et al.

Investigative Ophthalmology & Visual Science, 2016

27898983 (PubMed )
Supplement: iovs-57-14-17_s03.xlsx › 226RetnetDATA2P6M6A0ORout

The unconventional secretion of ARMS2.

Kortvely E et al.

Human Molecular Genetics, 2016

Gene Structure of the 10q26 Locus: A Clue to Cracking the ARMS2/HTRA1 Riddle?

Kortvely E et al.

Advances in Experimental Medicine and Biology, 2016

Rare genetic variants in Tunisian Jewish patients suffering from age-related macular degeneration.

Pras E et al.

Journal of Medical Genetics, 2015

Chromosome 10q26 locus and age-related macular degeneration: a progress update.

Wang G

Experimental Eye Research, 2014

Cumulative association between age-related macular degeneration and less studied genetic variants in PLEKHA1/ARMS2/HTRA1: a meta and gene-cluster analysis.

Yu W et al.

Molecular Biology Reports, 2013

AMD-associated variants at the chromosome 10q26 locus and the stability of ARMS2 transcripts.

Minor EA et al.

Investigative Ophthalmology & Visual Science, 2013

Variants at chromosome 10q26 locus and the expression of HTRA1 in the retina.

Wang G et al.

Experimental Eye Research, 2013

Coding variants in ARMS2 and the risk of age-related macular degeneration.

Wang G et al.

Jama Ophthalmology, 2013

Autozygome sequencing expands the horizon of human knockout research and provides novel insights into human phenotypic variation.

Alsalem AB et al.

Plos Genetics, 2013

24367280 (PubMed )
Supplement: pgen.1004030.s004.xlsx › Sheet1

Differentiation of exudative age-related macular degeneration and polypoidal choroidal vasculopathy in the ARMS2/HTRA1 locus.

Liang XY et al.

Investigative Ophthalmology & Visual Science, 2012

A69S and R38X ARMS2 and Y402H CFH gene polymorphisms as risk factors for neovascular age-related macular degeneration in Poland - a brief report.

Teper SJ et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2012

Population differences in genetic risk for age-related macular degeneration and implications for genetic testing.

Spencer KL et al.

Archives of Ophthalmology (chicago, Ill. : 1960), 2012

The chromosome 10q26 susceptibility locus in age-related macular degeneration.

Stanton CM et al.

Advances in Experimental Medicine and Biology, 2012

Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency.

Friedrich U et al.

Human Molecular Genetics, 2011

Elevated C-reactive protein levels and ARMS2/HTRA1 gene variants in subjects without age-related macular degeneration.

Yasuma TR et al.

Molecular Vision, 2010

Involvement of genetic factors in the response to a variable-dosing ranibizumab treatment regimen for age-related macular degeneration.

Teper SJ et al.

Molecular Vision, 2010

Age-related macular degeneration-associated variants at chromosome 10q26 do not significantly alter ARMS2 and HTRA1 transcript levels in the human retina.

Kanda A et al.

Molecular Vision, 2010

Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration.

Yang Z et al.

Plos Genetics, 2010

Multilocus analysis of age-related macular degeneration.

Bergeron-Sawitzke J et al.

European Journal of Human Genetics : Ejhg, 2009

ARMS2 (LOC387715) variants in Japanese patients with exudative age-related macular degeneration and polypoidal choroidal vasculopathy.

Gotoh N et al.

American Journal of Ophthalmology, 2009

Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA.

Fritsche LG et al.

Nature Genetics, 2008

Role of ARMS2/HTRA1 risk alleles in the pathogenesis of neovascular age-related macular degeneration.

Pan Y et al.

Taiwan Journal of Ophthalmology, 0

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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."