VWF c.4138A>G ;(p.I1380V)

Variant ID: 12-6128446-T-C

NM_000552.3(VWF):c.4138A>G;(p.I1380V)

This variant was identified in 11 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: VWF: 4138A>G; I1380V; rs11063988
PubMed Link: 36409824
Variant Present in the following documents:
  • can-22-0423_supplementary_table_s3_suppst3.xlsx, sheet 1
View BVdb publication page



Role of ADAMTS13, VWF and F8 genes in deep vein thrombosis.

Plos One
Pagliari, Maria Teresa MT; Cairo, Andrea A; Boscarino, Marco M; Mancini, Ilaria I; Pappalardo, Emanuela E; Bucciarelli, Paolo P; Martinelli, Ida I; Rosendaal, Frits R FR; Peyvandi, Flora F
Publication Date: 2021

Variant appearance in text: VWF: I1380V; rs11063988
PubMed Link: 34662354
Variant Present in the following documents:
  • pone.0258675.s002.pdf
View BVdb publication page



Molecular coevolution of coagulation factor VIII and von Willebrand factor.

Blood Advances
Zakas, Philip M PM; Coyle, Christopher W CW; Brehm, Anja A; Bayer, Marion M; Solecka-Witulska, Barbara B; Radford, Caelan E CE; Brown, Christine C; Nesbitt, Kate K; Dwyer, Courtney C; Kannicht, Christoph C; Spencer, H Trent HT; Gaucher, Eric A EA; Doering, Christopher B CB; Lillicrap, David D
Publication Date: 2021-02-09

Variant appearance in text: VWF: I1380V
PubMed Link: 33560395
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: VWF: I1380V
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.

Oncotarget
Miller, Eirwen M EM; Patterson, Nicole E NE; Zechmeister, Jenna Marcus JM; Bejerano-Sagie, Michal M; Delio, Maria M; Patel, Kunjan K; Ravi, Nivedita N; Quispe-Tintaya, Wilber W; Maslov, Alexander A; Simmons, Nichelle N; Castaldi, Maria M; Vijg, Jan J; Karabakhtsian, Rouzan G RG; Greally, John M JM; Kuo, Dennis Y S DYS; Montagna, Cristina C
Publication Date: 2017-11-24

Variant appearance in text: VWF: I1380V; rs11063988
PubMed Link: 29254223
Variant Present in the following documents:
  • oncotarget-08-102033-s003.xlsx, sheet 1
View BVdb publication page



Gene-centric approach identifies new and known loci for FVIII activity and VWF antigen levels in European Americans and African Americans.

American Journal Of Hematology
Tang, Weihong W; Cushman, Mary M; Green, David D; Rich, Stephen S SS; Lange, Leslie A LA; Yang, Qiong Q; Tracy, Russell P RP; Tofler, Geoffrey H GH; Basu, Saonli S; Wilson, James G JG; Keating, Brendan J BJ; Weng, Lu-Chen LC; Taylor, Herman A HA; Jacobs, David R DR; Delaney, Joseph A JA; Palmer, Cameron D CD; Young, Taylor T; Pankow, James S JS; O'Donnell, Christopher J CJ; Smith, Nicholas L NL; Reiner, Alexander P AP; Folsom, Aaron R AR
Publication Date: 2015-06

Variant appearance in text: rs11063988
PubMed Link: 25779970
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional display of platelet-binding VWF fragments on filamentous bacteriophage.

Plos One
Yee, Andrew A; Tan, Fen-Lai FL; Ginsburg, David D
Publication Date: 2013

Variant appearance in text: VWF: I1380V
PubMed Link: 24019925
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project.

Blood
Johnsen, Jill M JM; Auer, Paul L PL; Morrison, Alanna C AC; Jiao, Shuo S; Wei, Peng P; Haessler, Jeffrey J; Fox, Keolu K; McGee, Sean R SR; Smith, Joshua D JD; Carlson, Christopher S CS; Smith, Nicholas N; Boerwinkle, Eric E; Kooperberg, Charles C; Nickerson, Deborah A DA; Rich, Stephen S SS; Green, David D; Peters, Ulrike U; Cushman, Mary M; Reiner, Alex P AP; ,
Publication Date: 2013-07-25

Variant appearance in text: VWF: I1380V; rs11063988
PubMed Link: 23690449
Variant Present in the following documents:
  • Main text
View BVdb publication page



Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage.

Blood
Jacobi, Paula M PM; Gill, Joan Cox JC; Flood, Veronica H VH; Jakab, David A DA; Friedman, Kenneth D KD; Haberichter, Sandra L SL
Publication Date: 2012-05-10

Variant appearance in text: VWF: I1380V
PubMed Link: 22431572
Variant Present in the following documents:
  • Main text
View BVdb publication page



Common VWF exon 28 polymorphisms in African Americans affecting the VWF activity assay by ristocetin cofactor.

Blood
Flood, Veronica H VH; Gill, Joan Cox JC; Morateck, Patricia A PA; Christopherson, Pamela A PA; Friedman, Kenneth D KD; Haberichter, Sandra L SL; Branchford, Brian R BR; Hoffmann, Raymond G RG; Abshire, Thomas C TC; Di Paola, Jorge A JA; Hoots, W Keith WK; Leissinger, Cindy C; Lusher, Jeanne M JM; Ragni, Margaret V MV; Shapiro, Amy D AD; Montgomery, Robert R RR
Publication Date: 2010-07-15

Variant appearance in text: VWF: I1380V
PubMed Link: 20231421
Variant Present in the following documents:
  • Main text
View BVdb publication page