HFE c.559T>G ;(p.C187G)

Variant ID: 6-26091760-T-G

NM_000410.3(HFE):c.559T>G;(p.C187G)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


A haemochromatosis-causing HFE mutation is associated with SARS-CoV-2 susceptibility in the Czech population.

Clinica Chimica Acta; International Journal Of Clinical Chemistry
Hubacek, J A JA; Philipp, T T; Adamkova, V V; Majek, O O; Dusek, L L
Publication Date: 2022-12-23

Variant appearance in text: HFE: C187G
PubMed Link: 36572138
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Prognostic Value of Serum Transferrin Analysis in Patients with Ovarian Cancer and Cancer-Related Functional Iron Deficiency: A Retrospective Case-Control Study.

Journal Of Clinical Medicine
Ivanova, Tatiana I TI; Klabukov, Ilya D ID; Krikunova, Ludmila I LI; Poluektova, Marina V MV; Sychenkova, Natalia I NI; Khorokhorina, Vera A VA; Vorobyev, Nikolay V NV; Gaas, Margarita Ya MY; Baranovskii, Denis S DS; Goryainova, Oksana S OS; Sachko, Anastasiya M AM; Shegay, Peter V PV; Kaprin, Andrey D AD; Tillib, Sergei V SV
Publication Date: 2022-12-12

Variant appearance in text: HFE: C187G
PubMed Link: 36555993
Variant Present in the following documents:
  • Main text
  • jcm-11-07377.pdf
View BVdb publication page



Higher iron stores and the HFE 187C>G variant delay onset of peripheral neuropathy during combination antiretroviral therapy.

Plos One
Kallianpur, Asha R AR; Wen, Wanqing W; Erwin, Angelika L AL; Clifford, David B DB; Hulgan, Todd T; Robbins, Gregory K GK
Publication Date: 2020

Variant appearance in text: HFE: C187G
PubMed Link: 33057367
Variant Present in the following documents:
  • Main text
  • pone.0239758.pdf
View BVdb publication page



ALS and CHARGE syndrome: a clinical and genetic study.

Acta Neurologica Belgica
Ungaro, Carmine C; Citrigno, Luigi L; Trojsi, Francesca F; Sprovieri, Teresa T; Gentile, Giulia G; Muglia, Maria M; MonsurrĂ², Maria Rosaria MR; Tedeschi, Gioacchino G; Cavallaro, Sebastiano S; Conforti, Francesca Luisa FL
Publication Date: 2018-12

Variant appearance in text: HFE: C187G
PubMed Link: 30317490
Variant Present in the following documents:
  • 13760_2018_1029_MOESM3_ESM.pdf
  • 13760_2018_1029_MOESM4_ESM.pdf
View BVdb publication page



Hemochromatosis (HFE) Gene Variants Are Associated with Increased Mitochondrial DNA Levels During HIV-1 Infection and Antiretroviral Therapy.

Aids Research And Human Retroviruses
Kallianpur, Asha R AR; Gerschenson, Mariana M; Hulgan, Todd T; Kaur, Harpreet H; Clifford, David B DB; Haas, David W DW; Murdock, Deborah G DG; McArthur, Justin C JC; Samuels, David C DC; Simpson, David M DM
Publication Date: 2018-11

Variant appearance in text: HFE: C187G
PubMed Link: 29968489
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics and genomic medicine in Morocco: the present hope can make the future bright.

Molecular Genetics & Genomic Medicine
Belhassan, Khadija K; Ouldim, Karim K; Sefiani, Abdel Aziz AA
Publication Date: 2016-11

Variant appearance in text: HFE: C187G
PubMed Link: 27896281
Variant Present in the following documents:
  • Main text
  • MGG3-4-588.pdf
View BVdb publication page



Association of the apolipoprotein E 2 allele with concurrent occurrence of endometrial hyperplasia and endometrial carcinoma.

Oxidative Medicine And Cellular Longevity
Ivanova, Tatiana I TI; Krikunova, Ludmila I LI; Ryabchenko, Nikolay I NI; Mkrtchyan, Liana S LS; Khorokhorina, Vera A VA; Salnikova, Lyubov E LE
Publication Date: 2015

Variant appearance in text: HFE: C187G
PubMed Link: 25741405
Variant Present in the following documents:
  • Main text
  • OMCL2015-593658.pdf
View BVdb publication page



Genetic variation in iron metabolism is associated with neuropathic pain and pain severity in HIV-infected patients on antiretroviral therapy.

Plos One
Kallianpur, Asha R AR; Jia, Peilin P; Ellis, Ronald J RJ; Zhao, Zhongming Z; Bloss, Cinnamon C; Wen, Wanqing W; Marra, Christina M CM; Hulgan, Todd T; Simpson, David M DM; Morgello, Susan S; McArthur, Justin C JC; Clifford, David B DB; Collier, Ann C AC; Gelman, Benjamin B BB; McCutchan, J Allen JA; Franklin, Donald D; Samuels, David C DC; Rosario, Debralee D; Holzinger, Emily E; Murdock, Deborah G DG; Letendre, Scott S; Grant, Igor I; ,
Publication Date: 2014

Variant appearance in text: HFE: C187G
PubMed Link: 25144566
Variant Present in the following documents:
  • Main text
  • pone.0103123.pdf
View BVdb publication page



An association study of HFE gene mutation with idiopathic male infertility in the Chinese Han population.

Asian Journal Of Andrology
Yu, Xiao-Ying XY; Wang, Bin-Bin BB; Xin, Zhong-Cheng ZC; Liu, Tao T; Ma, Ke K; Jiang, Jian J; Fang, Xiang X; Yu, Li-Hua LH; Peng, Yi-Feng YF; Ma, Xu X
Publication Date: 2012-07

Variant appearance in text: HFE: C187G
PubMed Link: 22504868
Variant Present in the following documents:
  • Main text
View BVdb publication page



Effects of C282Y, H63D, and S65C HFE gene mutations, diet, and life-style factors on iron status in a general Mediterranean population from Tarragona, Spain.

Annals Of Hematology
Aranda, NĂºria N; Viteri, Fernando E FE; Montserrat, Carme C; Arija, Victoria V
Publication Date: 2010-08

Variant appearance in text: HFE: C187G
PubMed Link: 20107990
Variant Present in the following documents:
  • Main text
View BVdb publication page



Best practice guidelines for the molecular genetic diagnosis of Type 1 (HFE-related) hereditary haemochromatosis.

Bmc Medical Genetics
King, Caitriona C; Barton, David E DE
Publication Date: 2006-11-29

Variant appearance in text: HFE: C187G
PubMed Link: 17134494
Variant Present in the following documents:
  • Main text
  • 1471-2350-7-81.pdf
View BVdb publication page



Occult celiac disease prevents penetrance of hemochromatosis.

World Journal Of Gastroenterology
Geier, Andreas A; Gartung, Carsten C; Theurl, Igor I; Weiss, Guenter G; Lammert, Frank F; Dietrich, Christoph-G CG; Weiskirchen, Ralf R; Zoller, Heinz H; Hermanns, Benita B; Matern, Siegfried S
Publication Date: 2005-06-07

Variant appearance in text: HFE: C187G
PubMed Link: 15929194
Variant Present in the following documents:
  • Main text
View BVdb publication page