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F8 c.5408C>A ;(p.S1803Y)
Variant ID: X-154133264-G-T
NM_000132.3(
F8
):c.5408C>A;(p.S1803Y)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity.
Scientific Reports
Marín, Òscar Ò; Aguirre, Josu J; de la Cruz, Xavier X
Publication Date: 2019-07-02
Variant appearance in text: F8: S1803Y
PubMed Link:
31267011
Variant Present in the following documents:
41598_2019_45916_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
Identification of a novel mutation in the factor VIII gene causing severe haemophilia A.
Bmc Hematology
Nissen, S K SK; Laursen, A L AL; Poulsen, L H LH; Mogensen, T H TH
Publication Date: 2018
Variant appearance in text: F8: S1803Y; rs137852444
PubMed Link:
30083353
Variant Present in the following documents:
Main text
12878_2018_Article_113.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: S1803Y
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: S1803Y
PubMed Link:
26206375
Variant Present in the following documents:
12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Nucleic Acids Research
Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH
Publication Date: 2009-03
Variant appearance in text: F8: S1803Y
PubMed Link:
19139070
Variant Present in the following documents:
gkn1008_nar-01723-s-2008-File009.xls, sheet 1
View BVdb publication page