F8 c.6046C>T ;(p.R2016W)

Variant ID: X-154130395-G-A

NM_000132.3(F8):c.6046C>T;(p.R2016W)

This variant was identified in 20 publications

View GRCh38 version.




Publications:


Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer
Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T
Publication Date: 2021-10

Variant appearance in text: F8: 6046C>T; Arg2016Trp
PubMed Link: 34738089
Variant Present in the following documents:
  • NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1
View BVdb publication page



Characterization of a Cohort of Patients With LIG4 Deficiency Reveals the Founder Effect of p.R278L, Unique to the Chinese Population.

Frontiers In Immunology
Luo, Xianze X; Liu, Qing Q; Jiang, Jinqiu J; Tang, Wenjing W; Ding, Yuan Y; Zhou, Lina L; Yu, Jie J; Tang, Xuemei X; An, Yunfei Y; Zhao, Xiaodong X
Publication Date: 2021

Variant appearance in text: F8: 6046C>T
PubMed Link: 34630384
Variant Present in the following documents:
  • Main text
  • fimmu-12-695993.pdf
View BVdb publication page



Hsa-miR-5581-3p and Hsa-miR-542-3p Target the F8 Gene in Hemophilia A without F8 Mutations.

Mediterranean Journal Of Hematology And Infectious Diseases
Meng, Feiying F
Publication Date: 2021

Variant appearance in text: F8: 6046C>T
PubMed Link: 34276910
Variant Present in the following documents:
  • Main text
  • mjhid-13-1-e2021041.pdf
View BVdb publication page



Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function.

American Journal Of Human Genetics
Lombardi, Silvia S; Leo, Gabriele G; Merlin, Simone S; Follenzi, Antonia A; McVey, John H JH; Maestri, Iva I; Bernardi, Francesco F; Pinotti, Mirko M; Balestra, Dario D
Publication Date: 2021-08-05

Variant appearance in text: F8: 6046C>T
PubMed Link: 34242570
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic analysis of carrier status in female members of Japanese hemophilia families.

Journal Of Thrombosis And Haemostasis : Jth
Shinozawa, Keiko K; Amano, Kagehiro K; Hagiwara, Takeshi T; Bingo, Masato M; Chikasawa, Yushi Y; Inaba, Hiroshi H; Kinai, Ei E; Fukutake, Katsuyuki K
Publication Date: 2021-06

Variant appearance in text: F8: 6046C>T
PubMed Link: 33760382
Variant Present in the following documents:
  • Main text
  • JTH-19-1493.pdf
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: F8: R2016W
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Hemophilia management: Huge impact of a tiny difference.

Research And Practice In Thrombosis And Haemostasis
Kloosterman, Fabienne F; Zwagemaker, Anne-Fleur AF; Abdi, Amal A; Gouw, Samantha S; Castaman, Giancarlo G; Fijnvandraat, Karin K
Publication Date: 2020-03

Variant appearance in text: F8: Arg2016Trp
PubMed Link: 32211572
Variant Present in the following documents:
  • Main text
  • RTH2-4-377.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: F8: R2016W
PubMed Link: 31267011
Variant Present in the following documents:
  • 41598_2019_45916_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Hemophilia A: different phenotypes may be explained by multiple and variable effects of the causative mutation in the F8 gene.

Haematologica
Castaman, Giancarlo G
Publication Date: 2018-02

Variant appearance in text: FVIII: 6046C>T
PubMed Link: 29386375
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel approach to genetic analysis and results in 3000 hemophilia patients enrolled in the My Life, Our Future initiative.

Blood Advances
Johnsen, Jill M JM; Fletcher, Shelley N SN; Huston, Haley H; Roberge, Sarah S; Martin, Beth K BK; Kircher, Martin M; Josephson, Neil C NC; Shendure, Jay J; Ruuska, Sarah S; Koerper, Marion A MA; Morales, Jaime J; Pierce, Glenn F GF; Aschman, Diane J DJ; Konkle, Barbara A BA
Publication Date: 2017-05-23

Variant appearance in text: F8: 6046C>T
PubMed Link: 29296726
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity.

Haematologica
Donadon, Irving I; McVey, John H JH; Garagiola, Isabella I; Branchini, Alessio A; Mortarino, Mimosa M; Peyvandi, Flora F; Bernardi, Francesco F; Pinotti, Mirko M
Publication Date: 2018-02

Variant appearance in text: F8: 6046C>T
PubMed Link: 29170251
Variant Present in the following documents:
  • Main text
  • 1030344.pdf
View BVdb publication page



Spectrum of Molecular Defects in 216 Chinese Families With Hemophilia A: Identification of Noninversion Mutation Hot Spots and 42 Novel Mutations.

Clinical And Applied Thrombosis/Hemostasis : Official Journal Of The International Academy Of Clinical And Applied Thrombosis/Hemostasis
Guo, Zhiping Z; Yang, Linhua L; Qin, Xiuyu X; Liu, Xiue X; Zhang, Yaofang Y
Publication Date: 2018-01

Variant appearance in text: FVIII: 6046C>T
PubMed Link: 28056528
Variant Present in the following documents:
  • Main text
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: 6046C>T; R2016W; rs137852453
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM4_ESM.xlsx, sheet 1
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: F8: 6046C>T; R2016W
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Genomic Correlates of Immune-Cell Infiltrates in Colorectal Carcinoma.

Cell Reports
Giannakis, Marios M; Mu, Xinmeng Jasmine XJ; Shukla, Sachet A SA; Qian, Zhi Rong ZR; Cohen, Ofir O; Nishihara, Reiko R; Bahl, Samira S; Cao, Yin Y; Amin-Mansour, Ali A; Yamauchi, Mai M; Sukawa, Yasutaka Y; Stewart, Chip C; Rosenberg, Mara M; Mima, Kosuke K; Inamura, Kentaro K; Nosho, Katsuhiko K; Nowak, Jonathan A JA; Lawrence, Michael S MS; Giovannucci, Edward L EL; Chan, Andrew T AT; Ng, Kimmie K; Meyerhardt, Jeffrey A JA; Van Allen, Eliezer M EM; Getz, Gad G; Gabriel, Stacey B SB; Lander, Eric S ES; Wu, Catherine J CJ; Fuchs, Charles S CS; Ogino, Shuji S; Garraway, Levi A LA
Publication Date: 2016-04-26

Variant appearance in text: F8: R2016W
PubMed Link: 27149842
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



A recurrent F8 mutation (c.6046C>T) causing hemophilia A in 8% of northern Italian patients: evidence for a founder effect.

Molecular Genetics & Genomic Medicine
Garagiola, Isabella I; Seregni, Sabrina S; Mortarino, Mimosa M; Mancuso, Maria Elisa ME; Fasulo, Maria Rosaria MR; Notarangelo, Lucia Dora LD; Peyvandi, Flora F
Publication Date: 2016-03

Variant appearance in text: F8: 6046C>T
PubMed Link: 27066508
Variant Present in the following documents:
  • Main text
  • MGG3-4-152.pdf
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: R2016W
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Mutations driving CLL and their evolution in progression and relapse.

Nature
Landau, Dan A DA; Tausch, Eugen E; Taylor-Weiner, Amaro N AN; Stewart, Chip C; Reiter, Johannes G JG; Bahlo, Jasmin J; Kluth, Sandra S; Bozic, Ivana I; Lawrence, Mike M; Böttcher, Sebastian S; Carter, Scott L SL; Cibulskis, Kristian K; Mertens, Daniel D; Sougnez, Carrie L CL; Rosenberg, Mara M; Hess, Julian M JM; Edelmann, Jennifer J; Kless, Sabrina S; Kneba, Michael M; Ritgen, Matthias M; Fink, Anna A; Fischer, Kirsten K; Gabriel, Stacey S; Lander, Eric S ES; Nowak, Martin A MA; Döhner, Hartmut H; Hallek, Michael M; Neuberg, Donna D; Getz, Gad G; Stilgenbauer, Stephan S; Wu, Catherine J CJ
Publication Date: 2015-10-22

Variant appearance in text: F8: 6046C>T; R2016W
PubMed Link: 26466571
Variant Present in the following documents:
  • NIHMS715090-supplement-Supplementary_Table_3.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: R2016W
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page