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F8 c.1163T>C ;(p.I388T)
Variant ID: X-154194809-A-G
NM_000132.3(
F8
):c.1163T>C;(p.I388T)
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:
The evolving proteome of SARS-CoV-2 predominantly uses mutation combination strategy for survival.
Computational And Structural Biotechnology Journal
Patro, L Ponoop Prasad LPP; Sathyaseelan, Chakkarai C; Uttamrao, Patil Pranita PP; Rathinavelan, Thenmalarchelvi T
Publication Date: 2021
Variant appearance in text: F8C: I388T
PubMed Link:
34109017
Variant Present in the following documents:
mmc16.xlsx, sheet 1
mmc6.xlsx, sheet 1
mmc10.xlsx, sheet 1
View BVdb publication page
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: I388T
PubMed Link:
31267011
Variant Present in the following documents:
41598_2019_45916_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page
Specific and global coagulation assays in the diagnosis of discrepant mild hemophilia A.
Haematologica
Bowyer, Annette E AE; Van Veen, Joost J JJ; Goodeve, Anne C AC; Kitchen, Steve S; Makris, Michael M
Publication Date: 2013-12
Variant appearance in text: FVIII: Ile388Thr
PubMed Link:
23812942
Variant Present in the following documents:
Main text
View BVdb publication page