F8 c.2535C>A ;(p.D845E)

Variant ID: X-154159530-G-T

NM_000132.3(F8):c.2535C>A;(p.D845E)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: F8: D845E
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



The Role of Complement in Microangiopathic Lesions of IgA Nephropathy.

Kidney International Reports
Li, Jingyi J; Guo, Ling L; Shi, Sufang S; Zhou, Xujie X; Zhu, Li L; Liu, Lijun L; Lv, Jicheng J; Zhang, Hong H
Publication Date: 2022-06

Variant appearance in text: F8: 2535C>A; D845E
PubMed Link: 35685318
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Complexity and diversity of F8 genetic variations in the 1000 genomes.

Journal Of Thrombosis And Haemostasis : Jth
Li, J N JN; Carrero, I G IG; Dong, J F JF; Yu, F L FL
Publication Date: 2015-11

Variant appearance in text: F8: D845E
PubMed Link: 26383047
Variant Present in the following documents:
  • Main text
View BVdb publication page



Most factor VIII B domain missense mutations are unlikely to be causative mutations for severe hemophilia A: implications for genotyping.

Journal Of Thrombosis And Haemostasis : Jth
Ogata, K K; Selvaraj, S R SR; Miao, H Z HZ; Pipe, S W SW
Publication Date: 2011-06

Variant appearance in text: FVIII: 2535C>A
PubMed Link: 21645226
Variant Present in the following documents:
  • Main text
View BVdb publication page