F8 c.5284T>C ;(p.F1762L)

Variant ID: X-154134784-A-G

NM_000132.3(F8):c.5284T>C;(p.F1762L)

This variant was identified in 4 publications

View GRCh38 version.




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: F1762L
PubMed Link: 31267011
Variant Present in the following documents:
  • 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1
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: F1762L
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: F1762L
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites.

Blood
Venceslá, Adoración A; Corral-Rodríguez, María Angeles MA; Baena, Manel M; Cornet, Mónica M; Domènech, Montserrat M; Baiget, Montserrat M; Fuentes-Prior, Pablo P; Tizzano, Eduardo F EF
Publication Date: 2008-04-01

Variant appearance in text: FVIII: 5284T>C
PubMed Link: 18184865
Variant Present in the following documents:
  • Main text
View BVdb publication page