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HFE c.527C>T ;(p.A176V)
Variant ID: 6-26091728-C-T
NM_000410.3(
HFE
):c.527C>T;(p.A176V)
This variant was identified in 4 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Currently favored sampling practices for tumor sequencing can produce optimal results in the clinical setting.
Scientific Reports
Pongor, Lőrinc S LS; Munkácsy, Gyöngyi G; Vereczkey, Ildikó I; Pete, Imre I; Győrffy, Balázs B
Publication Date: 2020-09-01
Variant appearance in text: HFE: 527C>T; Ala176Val
PubMed Link:
32873813
Variant Present in the following documents:
41598_2020_71382_MOESM6_ESM.xlsx, sheet 5
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: A176V
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: A176V
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: A176V
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 4
View BVdb publication page