HFE c.829G>A ;(p.E277K)

Variant ID: 6-26093125-G-A

NM_000410.3(HFE):c.829G>A;(p.E277K)

This variant was identified in 13 publications

View GRCh38 version.




Publications:


Clinical practice guidelines on hemochromatosis: Asian Pacific Association for the Study of the Liver.

Hepatology International
Crawford, Darrell H G DHG; Ramm, Grant A GA; Bridle, Kim R KR; Nicoll, Amanda J AJ; Delatycki, Martin B MB; Olynyk, John K JK
Publication Date: 2023-04-17

Variant appearance in text: HFE: E277K
PubMed Link: 37067673
Variant Present in the following documents:
  • Main text
  • 12072_2023_Article_10510.pdf
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: HFE: E277K
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Frequency of Hereditary Hemochromatosis Gene (HFE) Variants in Sri Lankan Transfusion-Dependent Beta-Thalassemia Patients and Their Association With the Serum Ferritin Level.

Frontiers In Pediatrics
Padeniya, Padmapani P; Goonasekara, Hemali H; Abeysekera, Gayan G; Jayasekara, Rohan R; Dissanayake, Vajira V
Publication Date: 2022

Variant appearance in text: HFE: E277K
PubMed Link: 35903164
Variant Present in the following documents:
  • fped-10-890989.pdf
View BVdb publication page



Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: HFE: 829G>A; Glu277Lys
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect.

Genes
Brodehl, Andreas A; Pour Hakimi, Seyed Ahmad SA; Stanasiuk, Caroline C; Ratnavadivel, Sandra S; Hendig, Doris D; Gaertner, Anna A; Gerull, Brenda B; Gummert, Jan J; Paluszkiewicz, Lech L; Milting, Hendrik H
Publication Date: 2019-11-11

Variant appearance in text: HFE: E277K; rs140080192
PubMed Link: 31718026
Variant Present in the following documents:
  • genes-10-00918-s001.pdf
View BVdb publication page



Summary and Review of the Abstracts on Disorders of Red Cells and Erythropoiesis Presented at Haematocon 2016-2017.

Indian Journal Of Hematology & Blood Transfusion : An Official Journal Of Indian Society Of Hematology And Blood Transfusion
Sharma, Prashant P
Publication Date: 2018-01

Variant appearance in text: HFE: E277K
PubMed Link: 29398793
Variant Present in the following documents:
  • Main text
View BVdb publication page



Frequency of Hereditary Hemochromatosis (HFE) Gene Mutations in Egyptian Beta Thalassemia Patients and its Relation to Iron Overload.

Open Access Macedonian Journal Of Medical Sciences
Enein, Azza Aboul AA; El Dessouky, Nermine A NA; Mohamed, Khalda S KS; Botros, Shahira K A SK; Abd El Gawad, Mona F MF; Hamdy, Mona M; Dyaa, Nehal N
Publication Date: 2016-06-15

Variant appearance in text: HFE: E277K
PubMed Link: 27335591
Variant Present in the following documents:
  • OAMJMS-4-226.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: E277K; rs140080192
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: E277K
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: E277K
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page



Juvenile Hemochromatosis, Genetic Study and Long-term Follow up after Therapy.

Middle East Journal Of Digestive Diseases
Malekzadeh, Masoud M MM; Radmard, Amir Reza AR; Nouroozi, Alireza A; Akbari, Mohammad Reza MR; Amini, Marzie M; Navabakhsh, Behrooz B; Caleffi, Angela A; Pietrangelo, Antonello A; Malekzadeh, Reza R
Publication Date: 2014-04

Variant appearance in text: HFE: E277K
PubMed Link: 24872867
Variant Present in the following documents:
  • mejdd-6-87.pdf
View BVdb publication page



Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Publication Date: 2014

Variant appearance in text: HFE: E277K
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-9.xlsx, sheet 1
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: Glu277Lys
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: Glu277Lys
PubMed Link: 22408404
Variant Present in the following documents:
  • Main text
  • ijms-13-01497.pdf
View BVdb publication page