HFE c.670C>T ;(p.R224W)

Variant ID: 6-26092966-C-T

NM_000410.3(HFE):c.670C>T;(p.R224W)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Alterations in homologous recombination repair genes in prostate cancer brain metastases.

Nature Communications
Rodriguez-Calero, Antonio A; Gallon, John J; Akhoundova, Dilara D; Maletti, Sina S; Ferguson, Alison A; Cyrta, Joanna J; Amstutz, Ursula U; Garofoli, Andrea A; Paradiso, Viola V; Tomlins, Scott A SA; Hewer, Ekkehard E; Genitsch, Vera V; Fleischmann, Achim A; Vassella, Erik E; Rushing, Elisabeth J EJ; Grobholz, Rainer R; Fischer, Ingeborg I; Jochum, Wolfram W; Cathomas, Gieri G; Osunkoya, Adeboye O AO; Bubendorf, Lukas L; Moch, Holger H; Thalmann, George G; Ng, Charlotte K Y CKY; Gillessen, Silke S; Piscuoglio, Salvatore S; Rubin, Mark A MA
Publication Date: 2022-05-03

Variant appearance in text: HFE: Arg224Trp; rs144797937
PubMed Link: 35504881
Variant Present in the following documents:
  • 41467_2022_30003_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Case report: DSP truncation variant p. R1951X leads to arrhythmogenic left ventricular cardiomyopathy.

European Heart Journal. Case Reports
Chen, Vincent V; Knight, Bradley P BP; McNally, Elizabeth M EM
Publication Date: 2022-03

Variant appearance in text: HFE: R224W
PubMed Link: 35474678
Variant Present in the following documents:
  • Main text
  • ytac105.pdf
View BVdb publication page



Genomic Landscape Survey Identifies SRSF1 as a Key Oncodriver in Small Cell Lung Cancer.

Plos Genetics
Jiang, Liyan L; Huang, Jiaqi J; Higgs, Brandon W BW; Hu, Zhibin Z; Xiao, Zhan Z; Yao, Xin X; Conley, Sarah S; Zhong, Haihong H; Liu, Zheng Z; Brohawn, Philip P; Shen, Dong D; Wu, Song S; Ge, Xiaoxiao X; Jiang, Yue Y; Zhao, Yizhuo Y; Lou, Yuqing Y; Morehouse, Chris C; Zhu, Wei W; Sebastian, Yinong Y; Czapiga, Meggan M; Oganesyan, Vaheh V; Fu, Haihua H; Niu, Yanjie Y; Zhang, Wei W; Streicher, Katie K; Tice, David D; Zhao, Heng H; Zhu, Meng M; Xu, Lin L; Herbst, Ronald R; Su, Xinying X; Gu, Yi Y; Li, Shyoung S; Huang, Lihua L; Gu, Jianren J; Han, Baohui B; Jallal, Bahija B; Shen, Hongbing H; Yao, Yihong Y
Publication Date: 2016-04

Variant appearance in text: rs144797937
PubMed Link: 27093186
Variant Present in the following documents:
  • pgen.1005895.s019.xlsx, sheet 1
View BVdb publication page