F8 c.1310G>C ;(p.R437P)

Variant ID: X-154194378-C-G

NM_000132.3(F8):c.1310G>C;(p.R437P)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: R437P
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: R437P
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Mutation spectrum of 122 hemophilia A families from Taiwanese population by LD-PCR, DHPLC, multiplex PCR and evaluating the clinical application of HRM.

Bmc Medical Genetics
Lin, Shin-Yu SY; Su, Yi-Ning YN; Hung, Chia-Cheng CC; Tsay, Woei W; Chiou, Shyh-Shin SS; Chang, Chieh-Ting CT; Ho, Hong-Nerng HN; Lee, Chien-Nan CN
Publication Date: 2008-06-20

Variant appearance in text: FVIII: 1310G>C
PubMed Link: 18565236
Variant Present in the following documents:
  • Main text
  • 1471-2350-9-53.pdf
View BVdb publication page