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F8 c.670G>T ;(p.G224W)
Variant ID: X-154215512-C-A
NM_000132.3(
F8
):c.670G>T;(p.G224W)
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:
An Altered Splicing Registry Explains the Differential ExSpeU1-Mediated Rescue of Splicing Mutations Causing Haemophilia A.
Frontiers In Genetics
Balestra, Dario D; Maestri, Iva I; Branchini, Alessio A; Ferrarese, Mattia M; Bernardi, Francesco F; Pinotti, Mirko M
Publication Date: 2019
Variant appearance in text: F8: 670G>T
PubMed Link:
31649737
Variant Present in the following documents:
Main text
fgene-10-00974.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: HEMA: G224W
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
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: F8: G224W
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page
Mutations in intron 1 and intron 22 inversion negative haemophilia A patients from Western India.
Plos One
Nair, Preethi S PS; Shetty, Shrimati D SD; Chandrakala, S S; Ghosh, Kanjaksha K
Publication Date: 2014
Variant appearance in text: FVIII: 670G>T
PubMed Link:
24845853
Variant Present in the following documents:
Main text
pone.0097337.pdf
View BVdb publication page