VWF c.3929C>T ;(p.S1310F)

Variant ID: 12-6128655-G-A

NM_000552.3(VWF):c.3929C>T;(p.S1310F)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Genomic complexity predicts resistance to endocrine therapy and CDK4/6 inhibition in hormone receptor-positive (HR+)/HER2-negative metastatic breast cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Davis, Andrew A AA; Luo, Jingqin J; Zheng, Tiantian T; Dai, Chao C; Dong, Xiaoxi X; Tan, Lu L; Suresh, Rama R; Ademuyiwa, Foluso O FO; Rigden, Caron C; Rearden, Timothy P TP; Clifton, Katherine K; Weilbaecher, Katherine K; Frith, Ashley A; Tandra, Pavankumar K PK; Summa, Tracy T; Haas, Brittney B; Thomas, Shana S; Hernandez-Aya, Leonel F LF; Peterson, Lindsay L LL; Wang, Xiaohong X; Luo, Shujun J SJ; Zhou, Kemin K; Du, Pan P; Jia, Shidong S; King, Bonnie L BL; Krishnamurthy, Jairam J; Ma, Cynthia X CX
Publication Date: 2023-01-24

Variant appearance in text: VWF: 3929C>T; Ser1310Phe
PubMed Link: 36693175
Variant Present in the following documents:
  • ccr-22-2177_supplementary_data_s1_suppds1.xlsx, sheet 3
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Analysis of von Willebrand Disease in the "Heart of Europe".

Th Open : Companion Journal To Thrombosis And Haemostasis
Vangenechten, Inge I; Smejkal, Petr P; Zavrelova, Jiri J; Zapletal, Ondrej O; Wild, Alexander A; Michiels, Jan Jacques JJ; Berneman, Zwi Z; Blatny, Jan J; Batorova, Angelika A; Prigancova, Tatiana T; Penka, Miroslav M; Gadisseur, Alain A
Publication Date: 2022-10

Variant appearance in text: VWF: 3929C>T; Ser1310Phe
PubMed Link: 36299619
Variant Present in the following documents:
  • 10-1055-s-0042-1757635-s22060029.pdf
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Laboratory assays of VWF activity and use of desmopressin trials in the diagnosis of VWD: a systematic review and meta-analysis.

Blood Advances
Kalot, Mohamad A MA; Husainat, Nedaa N; Abughanimeh, Omar O; Diab, Osama O; El Alayli, Abdallah A; Tayiem, Sammy S; Madoukh, Bader B; Dimassi, Ahmad A; Qureini, Aref A; Ameer, Barbara B; Eikenboom, Jeroen J; Giraud, Nicolas N; Haberichter, Sandra S; Jacobs-Pratt, Vicky V; Konkle, Barbara A BA; McRae, Simon S; Montgomery, Robert R; O'Donnell, James S JS; Brignardello-Petersen, Romina R; Flood, Veronica V; Connell, Nathan T NT; James, Paula P; Mustafa, Reem A RA
Publication Date: 2022-06-28

Variant appearance in text: VWF: S1310F
PubMed Link: 35192687
Variant Present in the following documents:
  • advancesADV2021005431C-suppl1.pdf
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Specific electrostatic interactions between charged amino acid residues regulate binding of von Willebrand factor to blood platelets.

The Journal Of Biological Chemistry
Interlandi, Gianluca G; Yakovenko, Olga O; Tu, An-Yue AY; Harris, Jeff J; Le, Jennie J; Chen, Junmei J; López, José A JA; Thomas, Wendy E WE
Publication Date: 2017-11-10

Variant appearance in text: VWF: S1310F
PubMed Link: 28924049
Variant Present in the following documents:
  • Main text
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Structural basis of regulation of von Willebrand factor binding to glycoprotein Ib.

The Journal Of Biological Chemistry
Blenner, Mark A MA; Dong, Xianchi X; Springer, Timothy A TA
Publication Date: 2014-02-28

Variant appearance in text: VWF: S1310F
PubMed Link: 24391089
Variant Present in the following documents:
  • Main text
View BVdb publication page



Translational medicine advances in von Willebrand disease.

Journal Of Thrombosis And Haemostasis : Jth
Lillicrap, D D
Publication Date: 2013-06

Variant appearance in text: VWF: S1310F
PubMed Link: 23809112
Variant Present in the following documents:
  • Main text
View BVdb publication page



Laboratory testing for von Willebrand disease: toward a mechanism-based classification.

Clinics In Laboratory Medicine
Torres, Richard R; Fedoriw, Yuri Y
Publication Date: 2009-06

Variant appearance in text: VWF: S1310F
PubMed Link: 19665675
Variant Present in the following documents:
  • Main text
View BVdb publication page