Varaico: Literature-Extracted Genetic Variants

Gene:HTRA1
Variant:p.V209M
Back to variants list

HTRA1

NM_002775.5:p.V209M

Associated Papers

Whole-Genome Sequencing Reveals a Novel GATA2 Mutation in Lower-Grade Glioma: Bioinformatics Analysis of Functional and Therapeutic Implications.

Handoko et al.

Cancers, 2025

41154393 (PubMed )
Supplement: cancers-17-03338-s001.zip › Table_S1._SNV_Analysis.xlsx › SNV_Analysis

Genetic analysis reveals novel variants for vascular cognitive impairment.

Mönkäre S et al.

Acta Neurologica Scandinavica, 2022

35307828 (PubMed )
Supplement: ANE-146-42-s001.docx

Systematic Review of Cerebral Phenotypes Associated With Monogenic Cerebral Small-Vessel Disease.

Whittaker E et al.

Journal of the American Heart Association, 2022

Beyond the Brain: Systematic Review of Extracerebral Phenotypes Associated With Monogenic Cerebral Small Vessel Disease.

Rannikmäe K et al.

Stroke, 2020

32842921 (PubMed )
Supplement: str_stroke-2020-029517_supp1.pdf

HTRA1 rs11200638 variant and AMD risk from a comprehensive analysis about 15,316 subjects.

Liu Y et al.

Bmc Medical Genetics, 2020

HTRA1 promoter variant differentiates polypoidal choroidal vasculopathy from exudative age-related macular degeneration.

Ng TK et al.

Scientific Reports, 2016

Influence of CFH, HTRA1 and ARMS2 polymorphisms in the response to intravitreal ranibizumab treatment for wet age-related macular degeneration in a Spanish population.

Cruz-Gonzalez F et al.

International Journal of Ophthalmology, 2016

CX3CR1 polymorphisms and the risk of age-related macular degeneration.

Ma B et al.

International Journal of Clinical and Experimental Pathology, 2015

CFH (rs1410996), HTRA1 (rs112000638) and ARMS2 (rs10490923) gene polymorphisms are associated with AMD risk in Spanish patients.

Cruz-González F et al.

Ophthalmic Genetics, 2014

Exclusion of influences of ARMS2 polymorphisms on the central visual field in retinitis pigmentosa.

Masahara H et al.

Ophthalmologica. Journal International D'ophtalmologie. International Journal of Ophthalmology. Zeitschrift Fur Augenheilkunde, 2014

Single nucleotide polymorphism in the cholesterol-24S-hydroxylase (CYP46A1) gene and its association with CFH and LOC387715 gene polymorphisms in age-related macular degeneration.

Fourgeux C et al.

Investigative Ophthalmology & Visual Science, 2012

Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype.

Sofat R et al.

International Journal of Epidemiology, 2012

Haplotype analysis of the ARMS2/HTRA1 region in Japanese patients with typical neovascular age-related macular degeneration or polypoidal choroidal vasculopathy.

Gotoh N et al.

Japanese Journal of Ophthalmology, 2010

An intergenic region between the tagSNP rs3793917 and rs11200638 in the HTRA1 gene indicates association with age-related macular degeneration.

Richardson AJ et al.

Investigative Ophthalmology & Visual Science, 2010

Polymorphisms in CFH, HTRA1 and CX3CR1 confer risk to exudative age-related macular degeneration in Han Chinese.

Yang X et al.

The British Journal of Ophthalmology, 2010

ARMS2/HTRA1 and CFH polymorphisms are not associated with choroidal neovascularization in highly myopic eyes of the elderly Japanese population.

Nakanishi H et al.

Eye (london, England), 2010

Association of HTRA1 promoter polymorphism with spinal disc degeneration in Japanese women.

Urano T et al.

Journal of Bone and Mineral Metabolism, 2010

Variations in five genes and the severity of age-related macular degeneration: results from the Muenster aging and retina study.

Farwick A et al.

Eye (london, England), 2009

The molecular genetic basis of age-related macular degeneration: an overview.

Katta S et al.

Journal of Genetics, 2009

Meta-analysis of the association of the HTRA1 polymorphisms with the risk of age-related macular degeneration.

Chen W et al.

Experimental Eye Research, 2009

Molecular pathology of age-related macular degeneration.

Ding X et al.

Progress in Retinal and Eye Research, 2009

Single nucleotide polymorphisms of the tenomodulin gene (TNMD) in age-related macular degeneration.

Tolppanen AM et al.

Molecular Vision, 2009

HTRA1 variants in exudative age-related macular degeneration and interactions with smoking and CFH.

Tam PO et al.

Investigative Ophthalmology & Visual Science, 2008

Multifactor effects and evidence of potential interaction between complement factor H Y402H and LOC387715 A69S in age-related macular degeneration.

Seitsonen SP et al.

Plos One, 2008

Association of the HTRA1 -625G>A promoter gene polymorphism with exudative age-related macular degeneration in a Central European population.

Weger M et al.

Molecular Vision, 2007

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."