HFE c.277G>C ;(p.G93R)

Variant ID: 6-26091269-G-C

NM_000410.3(HFE):c.277G>C;(p.G93R)

This variant was identified in 16 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: HFE: 277G>C; Gly93Arg
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Clinical assessment for diet prescription.

Journal Of Preventive Medicine And Hygiene
Kiani, Aysha Karim AK; Medori, Maria Chiara MC; Dhuli, Kristjana K; Donato, Kevin K; Caruso, Paola P; Fioretti, Francesco F; Perrone, Marco Alfonso MA; Ceccarini, Maria Rachele MR; Manganotti, Paolo P; Nodari, Savina S; Codini, Michela M; Beccari, Tommaso T; Bertelli, Matteo M
Publication Date: 2022-06

Variant appearance in text: rs28934597
PubMed Link: 36479490
Variant Present in the following documents:
  • Main text
  • jpmh-2022-02-e102.pdf
View BVdb publication page



Engineering Peptide Inhibitors of the HFE-Transferrin Receptor 1 Complex.

Molecules (Basel, Switzerland)
Goncalves Monteiro, Daniela D; Rishi, Gautam G; Gorman, Declan M DM; Burnet, Guillaume G; Aliyanto, Randy R; Rosengren, K Johan KJ; Frazer, David M DM; Subramaniam, V Nathan VN; Clark, Richard J RJ
Publication Date: 2022-10-04

Variant appearance in text: HFE: G93R
PubMed Link: 36235117
Variant Present in the following documents:
  • molecules-27-06581.pdf
View BVdb publication page



HLA-A*03, the hemochromatosis ancestral haplotype, and phenotypes of referred hemochromatosis probands with HFE p.C282Y homozygosity.

Hereditas
Barton, James C JC; Barton, J Clayborn JC; Acton, Ronald T RT
Publication Date: 2022-06-06

Variant appearance in text: HFE: G93R
PubMed Link: 35659379
Variant Present in the following documents:
  • 41065_2022_Article_237.pdf
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: HFE: 277G>C; Gly93Arg; rs28934597
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genetic test for the prescription of diets in support of physical activity.

Acta Bio-Medica : Atenei Parmensis
Naureen, Zakira Z; Miggiano, Giacinto Abele Donato GAD; Aquilanti, Barbara B; Velluti, Valeria V; Matera, Giuseppina G; Gagliardi, Lucilla L; Zulian, Alessandra A; Romanelli, Roberta R; Bertelli, Matteo M
Publication Date: 2020-11-09

Variant appearance in text: rs28934597
PubMed Link: 33170161
Variant Present in the following documents:
  • Main text
  • ACTA-91-11.pdf
View BVdb publication page



Diabetes in HFE Hemochromatosis.

Journal Of Diabetes Research
Barton, James C JC; Acton, Ronald T RT
Publication Date: 2017

Variant appearance in text: HFE: G93R
PubMed Link: 28331855
Variant Present in the following documents:
  • Main text
  • JDR2017-9826930.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: HFE: G93R; rs28934597
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



HFE gene: Structure, function, mutations, and associated iron abnormalities.

Gene
Barton, James C JC; Edwards, Corwin Q CQ; Acton, Ronald T RT
Publication Date: 2015-12-15

Variant appearance in text: HFE: G93R
PubMed Link: 26456104
Variant Present in the following documents:
  • Main text
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: HFE: G93R
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: HFE: G93R
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

International Journal Of Molecular Sciences
Santos, Paulo C J L PCJL; Krieger, Jose E JE; Pereira, Alexandre C AC
Publication Date: 2012

Variant appearance in text: HFE: Gly93Arg
PubMed Link: 22408404
Variant Present in the following documents:
  • Main text
  • ijms-13-01497.pdf
View BVdb publication page



Molecular diagnostic and pathogenesis of hereditary hemochromatosis.

International Journal Of Molecular Sciences
Santos, Paulo C J L PC; Krieger, Jose E JE; Pereira, Alexandre C AC
Publication Date: 2012

Variant appearance in text: HFE: Gly93Arg
PubMed Link: 22408404
Variant Present in the following documents:
  • Main text
  • ijms-13-01497.pdf
View BVdb publication page



Impact of gene patents and licensing practices on access to genetic testing for hereditary hemochromatosis.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Chandrasekharan, Subhashini S; Pitlick, Emily E; Heaney, Christopher C; Cook-Deegan, Robert R
Publication Date: 2010-04

Variant appearance in text: HFE: G93R
PubMed Link: 20393306
Variant Present in the following documents:
  • Main text
View BVdb publication page



HFE gene in primary and secondary hepatic iron overload.

World Journal Of Gastroenterology
Sebastiani, Giada G; Walker, Ann-P AP
Publication Date: 2007-09-21

Variant appearance in text: HFE: G93R
PubMed Link: 17729389
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mild iron overload in patients carrying the HFE S65C gene mutation: a retrospective study in patients with suspected iron overload and healthy controls.

Gut
Holmström, P P; Marmur, J J; Eggertsen, G G; Gåfvels, M M; Stål, P P
Publication Date: 2002-11

Variant appearance in text: HFE: G93R
PubMed Link: 12377814
Variant Present in the following documents:
  • Main text
View BVdb publication page



HLA-A and -B alleles and haplotypes in hemochromatosis probands with HFE C282Y homozygosity in central Alabama.

Bmc Medical Genetics
Barton, James C JC; Acton, Ronald T RT
Publication Date: 2002-10-07

Variant appearance in text: HFE: G93R
PubMed Link: 12370085
Variant Present in the following documents:
  • 1471-2350-3-9.pdf
View BVdb publication page