F5 c.952+76C>T

Variant ID: 1-169525808-G-A

NM_000130.4(F5):c.952+76C>T

This variant was identified in 9 publications

View GRCh38 version.




Publications:


JAK-STAT signaling in inflammatory breast cancer enables chemotherapy-resistant cell states.

Cancer Research
Stevens, Laura E LE; Peluffo, Guillermo G; Qiu, Xintao X; Temko, Daniel D; Fassl, Anne A; Li, Zheqi Z; Trinh, Anne A; Seehawer, Marco M; Jovanovic, Bojana B; Aleckovic, Masa M; Wilde, Callahan M CM; Geck, Renee C RC; Shu, Shaokun S; Kingston, Natalie L NL; Harper, Nicholas W NW; Almendro, Vanessa V; Pyke, Alanna L AL; Egri, Shawn B SB; Papanastasiou, Malvina M; Clement, Kendell K; Zhou, Ningxuan N; Walker, Sarah S; Salas, Jacqueline J; Park, So Yeon SY; Frank, David A DA; Meissner, Alexander A; Jaffe, Jacob D JD; Sicinski, Piotr P; Toker, Alex A; Michor, Franziska F; Long, Henry W HW; Overmoyer, Beth A BA; Polyak, Kornelia K
Publication Date: 2022-11-21

Variant appearance in text: F5: 952+76C>T; rs2239854
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
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High Mutational Heterogeneity, and New Mutations in the Human Coagulation Factor V Gene. Future Perspectives for Factor V Deficiency Using Recombinant and Advanced Therapies.

International Journal Of Molecular Sciences
Bernal, Sara S; Pelaez, Irene I; Alias, Laura L; Baena, Manel M; De Pablo-Moreno, Juan A JA; Serrano, Luis J LJ; Camero, M Dolores MD; Tizzano, Eduardo F EF; Berrueco, Ruben R; Liras, Antonio A
Publication Date: 2021-09-08

Variant appearance in text: F5: 952+76C>T; rs2239854
PubMed Link: 34575869
Variant Present in the following documents:
  • Main text
  • ijms-22-09705.pdf
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Novel germline TRAF3IP3 mutation in a dyad with familial acute B lymphoblastic leukemia.

Cancer Reports (Hoboken, N.J.)
Pommert, Lauren L; Burns, Robert R; Furumo, Quinlan Q; Pulakanti, Kirthi K; Brandt, Jon J; Burke, Michael J MJ; Rao, Sridhar S
Publication Date: 2021-06

Variant appearance in text: F5: 952+76C>T; rs2239854
PubMed Link: 33503336
Variant Present in the following documents:
  • CNR2-4-e1335-s003.xlsx, sheet 2
  • CNR2-4-e1335-s003.xlsx, sheet 1
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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: rs2239854
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal
Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL
Publication Date: 2019-04

Variant appearance in text: rs2239854
PubMed Link: 30214008
Variant Present in the following documents:
  • NIHMS1503453-supplement-3.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs2239854
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



New insights into the genetics of primary open-angle glaucoma based on meta-analyses of intraocular pressure and optic disc characteristics.

Human Molecular Genetics
Springelkamp, Henriët H; Iglesias, Adriana I AI; Mishra, Aniket A; Höhn, René R; Wojciechowski, Robert R; Khawaja, Anthony P AP; Nag, Abhishek A; Wang, Ya Xing YX; Wang, Jie Jin JJ; Cuellar-Partida, Gabriel G; Gibson, Jane J; Bailey, Jessica N Cooke JN; Vithana, Eranga N EN; Gharahkhani, Puya P; Boutin, Thibaud T; Ramdas, Wishal D WD; Zeller, Tanja T; Luben, Robert N RN; Yonova-Doing, Ekaterina E; Viswanathan, Ananth C AC; Yazar, Seyhan S; Cree, Angela J AJ; Haines, Jonathan L JL; Koh, Jia Yu JY; Souzeau, Emmanuelle E; Wilson, James F JF; Amin, Najaf N; Müller, Christian C; Venturini, Cristina C; Kearns, Lisa S LS; Kang, Jae Hee JH; , ; Tham, Yih Chung YC; Zhou, Tiger T; van Leeuwen, Elisabeth M EM; Nickels, Stefan S; Sanfilippo, Paul P; Liao, Jiemin J; van der Linde, Herma H; Zhao, Wanting W; van Koolwijk, Leonieke M E LM; Zheng, Li L; Rivadeneira, Fernando F; Baskaran, Mani M; van der Lee, Sven J SJ; Perera, Shamira S; de Jong, Paulus T V M PT; Oostra, Ben A BA; Uitterlinden, André G AG; Fan, Qiao Q; Hofman, Albert A; Tai, E-Shyong ES; Vingerling, Johannes R JR; Sim, Xueling X; Wolfs, Roger C W RC; Teo, Yik Ying YY; Lemij, Hans G HG; Khor, Chiea Chuen CC; Willemsen, Rob R; Lackner, Karl J KJ; Aung, Tin T; Jansonius, Nomdo M NM; Montgomery, Grant G; Wild, Philipp S PS; Young, Terri L TL; Burdon, Kathryn P KP; Hysi, Pirro G PG; Pasquale, Louis R LR; Wong, Tien Yin TY; Klaver, Caroline C W CC; Hewitt, Alex W AW; Jonas, Jost B JB; Mitchell, Paul P; Lotery, Andrew J AJ; Foster, Paul J PJ; Vitart, Veronique V; Pfeiffer, Norbert N; Craig, Jamie E JE; Mackey, David A DA; Hammond, Christopher J CJ; Wiggs, Janey L JL; Cheng, Ching-Yu CY; van Duijn, Cornelia M CM; MacGregor, Stuart S
Publication Date: 2017-01-15

Variant appearance in text: rs2239854
PubMed Link: 28073927
Variant Present in the following documents:
  • Main text
View BVdb publication page



Entropy based genetic association tests and gene-gene interaction tests.

Statistical Applications In Genetics And Molecular Biology
de Andrade, Mariza M; Wang, Xin X
Publication Date: 2011-08-22

Variant appearance in text: rs2239854
PubMed Link: 23089811
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common hemostasis and inflammation gene variants and venous thrombosis in older adults from the Cardiovascular Health Study.

Journal Of Thrombosis And Haemostasis : Jth
Reiner, A P AP; Lange, L A LA; Smith, N L NL; Zakai, N A NA; Cushman, M M; Folsom, A R AR
Publication Date: 2009-09

Variant appearance in text: rs2239854
PubMed Link: 19552680
Variant Present in the following documents:
  • Main text
View BVdb publication page