F8 c.6814A>G ;(p.T2272A)

Variant ID: X-154088793-T-C

NM_000132.3(F8):c.6814A>G;(p.T2272A)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: F8: T2272A
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Six amino acid residues in a 1200 Å2 interface mediate binding of factor VIII to an IgG4κ inhibitory antibody.

Plos One
Lin, Jasper C JC; Ettinger, Ruth A RA; Schuman, Jason T JT; Zhang, Ai-Hong AH; Wamiq-Adhami, Muhammad M; Nguyen, Phuong-Cac T PC; Nakaya-Fletcher, Shelley M SM; Puranik, Komal K; Thompson, Arthur R AR; Pratt, Kathleen P KP
Publication Date: 2015

Variant appearance in text: FVIII: T2272A
PubMed Link: 25615825
Variant Present in the following documents:
  • Main text
  • pone.0116577.pdf
View BVdb publication page



High-resolution mapping of epitopes on the C2 domain of factor VIII by analysis of point mutants using surface plasmon resonance.

Blood
Nguyen, Phuong-Cac T PC; Lewis, Kenneth B KB; Ettinger, Ruth A RA; Schuman, Jason T JT; Lin, Jasper C JC; Healey, John F JF; Meeks, Shannon L SL; Lollar, Pete P; Pratt, Kathleen P KP
Publication Date: 2014-04-24

Variant appearance in text: FVIII: T2272A
PubMed Link: 24591205
Variant Present in the following documents:
  • Main text
View BVdb publication page