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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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