F8 c.396A>C ;(p.E132D)

Variant ID: X-154221416-T-G

NM_000132.3(F8):c.396A>C;(p.E132D)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.

American Journal Of Human Genetics
Kingsmore, Stephen F SF; Smith, Laurie D LD; Kunard, Chris M CM; Bainbridge, Matthew M; Batalov, Sergey S; Benson, Wendy W; Blincow, Eric E; Caylor, Sara S; Chambers, Christina C; Del Angel, Guillermo G; Dimmock, David P DP; Ding, Yan Y; Ellsworth, Katarzyna K; Feigenbaum, Annette A; Frise, Erwin E; Green, Robert C RC; Guidugli, Lucia L; Hall, Kevin P KP; Hansen, Christian C; Hobbs, Charlotte A CA; Kahn, Scott D SD; Kiel, Mark M; Van Der Kraan, Lucita L; Krilow, Chad C; Kwon, Yong H YH; Madhavrao, Lakshminarasimha L; Le, Jennie J; Lefebvre, Sebastien S; Mardach, Rebecca R; Mowrey, William R WR; Oh, Danny D; Owen, Mallory J MJ; Powley, George G; Scharer, Gunter G; Shelnutt, Seth S; Tokita, Mari M; Mehtalia, Shyamal S SS; Oriol, Albert A; Papadopoulos, Stavros S; Perry, James J; Rosales, Edwin E; Sanford, Erica E; Schwartz, Steve S; Tran, Duke D; Reese, Martin G MG; Wright, Meredith M; Veeraraghavan, Narayanan N; Wigby, Kristen K; Willis, Mary J MJ; Wolen, Aaron R AR; Defay, Thomas T
Publication Date: 2022-09-01

Variant appearance in text: F8: 396A>C; Glu132Asp
PubMed Link: 36007526
Variant Present in the following documents:
  • Main text
  • mmc2.xlsx, sheet 7
  • mmc3.pdf
  • main.pdf
View BVdb publication page



Applicability of the Thrombin Generation Test to Evaluate the Hemostatic Status of Hemophilia A Patients in Daily Clinical Practice.

Journal Of Clinical Medicine
Bernardo, Ángel Á; Caro, Alberto A; Martínez-Carballeira, Daniel D; Corte, José Ramón JR; Vázquez, Sonia S; Palomo-Antequera, Carmen C; Andreu, Alfredo A; Fernández-Pardo, Álvaro Á; Oto, Julia J; Gutiérrez, Laura L; Soto, Inmaculada I; Medina, Pilar P
Publication Date: 2022-06-10

Variant appearance in text: F8: Glu132Asp
PubMed Link: 35743412
Variant Present in the following documents:
  • jcm-11-03345.pdf
View BVdb publication page



Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines.

Nature Neuroscience
Baxi, Emily G EG; Thompson, Terri T; Li, Jonathan J; Kaye, Julia A JA; Lim, Ryan G RG; Wu, Jie J; Ramamoorthy, Divya D; Lima, Leandro L; Vaibhav, Vineet V; Matlock, Andrea A; Frank, Aaron A; Coyne, Alyssa N AN; Landin, Barry B; Ornelas, Loren L; Mosmiller, Elizabeth E; Thrower, Sara S; Farr, S Michelle SM; Panther, Lindsey L; Gomez, Emilda E; Galvez, Erick E; Perez, Daniel D; Meepe, Imara I; Lei, Susan S; Mandefro, Berhan B; Trost, Hannah H; Pinedo, Louis L; Banuelos, Maria G MG; Liu, Chunyan C; Moran, Ruby R; Garcia, Veronica V; Workman, Michael M; Ho, Richie R; Wyman, Stacia S; Roggenbuck, Jennifer J; Harms, Matthew B MB; Stocksdale, Jennifer J; Miramontes, Ricardo R; Wang, Keona K; Venkatraman, Vidya V; Holewenski, Ronald R; Sundararaman, Niveda N; Pandey, Rakhi R; Manalo, Danica-Mae DM; Donde, Aneesh A; Huynh, Nhan N; Adam, Miriam M; Wassie, Brook T BT; Vertudes, Edward E; Amirani, Naufa N; Raja, Krishna K; Thomas, Reuben R; Hayes, Lindsey L; Lenail, Alex A; Cerezo, Aianna A; Luppino, Sarah S; Farrar, Alanna A; Pothier, Lindsay L; Prina, Carolyn C; Morgan, Todd T; Jamil, Arish A; Heintzman, Sarah S; Jockel-Balsarotti, Jennifer J; Karanja, Elizabeth E; Markway, Jesse J; McCallum, Molly M; Joslin, Ben B; Alibazoglu, Deniz D; Kolb, Stephen S; Ajroud-Driss, Senda S; Baloh, Robert R; Heitzman, Daragh D; Miller, Tim T; Glass, Jonathan D JD; Patel-Murray, Natasha Leanna NL; Yu, Hong H; Sinani, Ervin E; Vigneswaran, Prasha P; Sherman, Alexander V AV; Ahmad, Omar O; Roy, Promit P; Beavers, Jay C JC; Zeiler, Steven S; Krakauer, John W JW; Agurto, Carla C; Cecchi, Guillermo G; Bellard, Mary M; Raghav, Yogindra Y; Sachs, Karen K; Ehrenberger, Tobias T; Bruce, Elizabeth E; Cudkowicz, Merit E ME; Maragakis, Nicholas N; Norel, Raquel R; Van Eyk, Jennifer E JE; Finkbeiner, Steven S; Berry, James J; Sareen, Dhruv D; Thompson, Leslie M LM; Fraenkel, Ernest E; Svendsen, Clive N CN; Rothstein, Jeffrey D JD
Publication Date: 2022-02

Variant appearance in text: F8: E132D; rs137852388
PubMed Link: 35115730
Variant Present in the following documents:
  • 41593_2021_1006_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



Molecular classification of blood and bleeding disorder genes.

Npj Genomic Medicine
Baz, Batoul B; Abouelhoda, Mohamed M; Owaidah, Tarek T; Dasouki, Majed M; Monies, Dorota D; Al Tassan, Nada N
Publication Date: 2021-07-16

Variant appearance in text: F8: 396A>C; Glu132Asp; rs137852388
PubMed Link: 34272389
Variant Present in the following documents:
  • 41525_2021_228_MOESM1_ESM.pdf
View BVdb publication page



Intronic regions of the human coagulation factor VIII gene harboring transcription factor binding sites with a strong bias towards the short-interspersed elements.

Heliyon
Haddad-Mashadrizeh, Aliakbar A; Hemmat, Jafar J; Aslamkhan, Muhammad M
Publication Date: 2020-09

Variant appearance in text: F8: E132D
PubMed Link: 32944665
Variant Present in the following documents:
  • Main text
  • main.pdf
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: FVIII: E132D
PubMed Link: 31267011
Variant Present in the following documents:
  • 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_45916_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: F8: 396A>C; E132D; rs137852388
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM5_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: E132D
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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: E132D
PubMed Link: 26383047
Variant Present in the following documents:
  • Main text
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: E132D
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Specific and global coagulation tests in patients with mild haemophilia A with a double mutation (Glu113Asp, Arg593Cys).

Blood Transfusion = Trasfusione Del Sangue
Trampuš Bakija, Alenka A; Debeljak, Maruša M; Preložnik Zupan, Irena I; Benedik Dolničar, Majda M; Kovač, Jernej J; Jazbec, Janez J
Publication Date: 2015-10

Variant appearance in text: F8: 396A>C
PubMed Link: 26057490
Variant Present in the following documents:
  • Main text
View BVdb publication page



Random single amino acid deletion sampling unveils structural tolerance and the benefits of helical registry shift on GFP folding and structure.

Structure (London, England : 1993)
Arpino, James A J JA; Reddington, Samuel C SC; Halliwell, Lisa M LM; Rizkallah, Pierre J PJ; Jones, D Dafydd DD
Publication Date: 2014-06-10

Variant appearance in text: F8: E132D
PubMed Link: 24856363
Variant Present in the following documents:
  • mmc2.pdf
View BVdb publication page