HR c.954G>T ;(p.E318D)

Variant ID: 8-21985001-C-A

NM_005144.4(HR):c.954G>T;(p.E318D)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Rare Dysfunctional Complement Factor I Genetic Variants and Progression to Advanced Age-Related Macular Degeneration.

Ophthalmology Science
Seddon, Johanna M JM; Rosner, Bernard B; De, Dikha D; Huan, Tianxiao T; Java, Anuja A; Atkinson, John J
Publication Date: 2023-06

Variant appearance in text: HR: E318D
PubMed Link: 36909148
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Genetic Susceptibility, Diet Quality, and Two-Step Progression in Drusen Size.

Investigative Ophthalmology & Visual Science
Merle, Bénédicte M J BMJ; Rosner, Bernard B; Seddon, Johanna M JM
Publication Date: 2020-05-11

Variant appearance in text: HR: E318D
PubMed Link: 32407518
Variant Present in the following documents:
  • iovs-61-5-17.pdf
View BVdb publication page



Validated Prediction Models for Macular Degeneration Progression and Predictors of Visual Acuity Loss Identify High-Risk Individuals.

American Journal Of Ophthalmology
Seddon, Johanna M JM; Rosner, Bernard B
Publication Date: 2019-02

Variant appearance in text: HR: E318D
PubMed Link: 30389371
Variant Present in the following documents:
  • Main text
View BVdb publication page



Macular Degeneration Epidemiology: Nature-Nurture, Lifestyle Factors, Genetic Risk, and Gene-Environment Interactions - The Weisenfeld Award Lecture.

Investigative Ophthalmology & Visual Science
Seddon, Johanna M JM
Publication Date: 2017-12-01

Variant appearance in text: HR: E318D
PubMed Link: 29288272
Variant Present in the following documents:
  • Main text
  • i1552-5783-58-14-6513.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: HR: 954G>T; E318D
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Dietary folate, B vitamins, genetic susceptibility and progression to advanced nonexudative age-related macular degeneration with geographic atrophy: a prospective cohort study.

The American Journal Of Clinical Nutrition
Merle, Bénédicte M J BM; Silver, Rachel E RE; Rosner, Bernard B; Seddon, Johanna M JM
Publication Date: 2016-04

Variant appearance in text: HR: E318D
PubMed Link: 26961928
Variant Present in the following documents:
  • Main text
View BVdb publication page



Adherence to a Mediterranean diet, genetic susceptibility, and progression to advanced macular degeneration: a prospective cohort study.

The American Journal Of Clinical Nutrition
Merle, Bénédicte M J BM; Silver, Rachel E RE; Rosner, Bernard B; Seddon, Johanna M JM
Publication Date: 2015-11

Variant appearance in text: HR: E318D
PubMed Link: 26490493
Variant Present in the following documents:
  • Main text
View BVdb publication page



Risk Prediction for Progression of Macular Degeneration: 10 Common and Rare Genetic Variants, Demographic, Environmental, and Macular Covariates.

Investigative Ophthalmology & Visual Science
Seddon, Johanna M JM; Silver, Rachel E RE; Kwong, Manlik M; Rosner, Bernard B
Publication Date: 2015-04

Variant appearance in text: HR: E318D
PubMed Link: 25655794
Variant Present in the following documents:
  • Main text
View BVdb publication page



Three new genetic loci (R1210C in CFH, variants in COL8A1 and RAD51B) are independently related to progression to advanced macular degeneration.

Plos One
Seddon, Johanna M JM; Reynolds, Robyn R; Yu, Yi Y; Rosner, Bernard B
Publication Date: 2014

Variant appearance in text: HR: E318D
PubMed Link: 24498017
Variant Present in the following documents:
  • Main text
  • pone.0087047.pdf
View BVdb publication page



Dietary omega-3 fatty acids, other fat intake, genetic susceptibility, and progression to incident geographic atrophy.

Ophthalmology
Reynolds, Robyn R; Rosner, Bernard B; Seddon, Johanna M JM
Publication Date: 2013-05

Variant appearance in text: HR: E318D
PubMed Link: 23481534
Variant Present in the following documents:
  • Main text
View BVdb publication page



Validation of a prediction algorithm for progression to advanced macular degeneration subtypes.

Jama Ophthalmology
Seddon, Johanna M JM; Reynolds, Robyn R; Yu, Yi Y; Rosner, Bernard B
Publication Date: 2013-04

Variant appearance in text: HR: E318D
PubMed Link: 23411794
Variant Present in the following documents:
  • Main text
View BVdb publication page



Susceptibility to advanced age-related macular degeneration and alleles of complement factor H, complement factor B, complement component 2, complement component 3, and age-related maculopathy susceptibility 2 genes in a Mexican population.

Molecular Vision
Buentello-Volante, Beatriz B; Rodriguez-Ruiz, Gabriela G; Miranda-Duarte, Antonio A; Pompa-Mera, Ericka N EN; Graue-Wiechers, Federico F; Bekker-Méndez, Carolina C; Ayala-Ramirez, Raul R; Quezada, Carlos C; Rodríguez-Loaiza, Jose L JL; Zenteno, Juan C JC
Publication Date: 2012

Variant appearance in text: HR: E318D
PubMed Link: 23112567
Variant Present in the following documents:
  • mv-v18-2518.pdf
View BVdb publication page



Dephosphorylation of the core clock protein KaiC in the cyanobacterial KaiABC circadian oscillator proceeds via an ATP synthase mechanism.

Biochemistry
Egli, Martin M; Mori, Tetsuya T; Pattanayek, Rekha R; Xu, Yao Y; Qin, Ximing X; Johnson, Carl H CH
Publication Date: 2012-02-28

Variant appearance in text: HR: E318D
PubMed Link: 22304631
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prospective assessment of genetic effects on progression to different stages of age-related macular degeneration using multistate Markov models.

Investigative Ophthalmology & Visual Science
Yu, Yi Y; Reynolds, Robyn R; Rosner, Bernard B; Daly, Mark J MJ; Seddon, Johanna M JM
Publication Date: 2012-03

Variant appearance in text: HR: E318D
PubMed Link: 22247473
Variant Present in the following documents:
  • Main text
View BVdb publication page



Risk models for progression to advanced age-related macular degeneration using demographic, environmental, genetic, and ocular factors.

Ophthalmology
Seddon, Johanna M JM; Reynolds, Robyn R; Yu, Yi Y; Daly, Mark J MJ; Rosner, Bernard B
Publication Date: 2011-11

Variant appearance in text: HR: E318D
PubMed Link: 21959373
Variant Present in the following documents:
  • Main text
View BVdb publication page



Structures of KaiC circadian clock mutant proteins: a new phosphorylation site at T426 and mechanisms of kinase, ATPase and phosphatase.

Plos One
Pattanayek, Rekha R; Mori, Tetsuya T; Xu, Yao Y; Pattanayek, Sabuj S; Johnson, Carl H CH; Egli, Martin M
Publication Date: 2009-11-26

Variant appearance in text: HR: E318D
PubMed Link: 19956664
Variant Present in the following documents:
  • Main text
  • pone.0007529.pdf
View BVdb publication page