VWF c.2386G>A ;(p.D796N)

Variant ID: 12-6153513-C-T

NM_000552.3(VWF):c.2386G>A;(p.D796N)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: D796N; rs771423537
PubMed Link: 34662354
Variant Present in the following documents:
  • pone.0258675.s002.pdf
View BVdb publication page



D' domain region Arg782-Cys799 of von Willebrand factor contributes to factor VIII binding.

Haematologica
Przeradzka, MaƂgorzata A MA; van Galen, Josse J; Ebberink, Eduard H T M EHTM; Hoogendijk, Arie J AJ; van der Zwaan, Carmen C; Mertens, Koen K; van den Biggelaar, Maartje M; Meijer, Alexander B AB
Publication Date: 2020-06

Variant appearance in text: VWF: Asp796Asn
PubMed Link: 31558672
Variant Present in the following documents:
  • Main text
  • 1051695.pdf
View BVdb publication page



Genomic characterization of a large panel of patient-derived hepatocellular carcinoma xenograft tumor models for preclinical development.

Oncotarget
Gu, Qingyang Q; Zhang, Bin B; Sun, Hongye H; Xu, Qiang Q; Tan, Yexiong Y; Wang, Guan G; Luo, Qin Q; Xu, Weiguo W; Yang, Shuqun S; Li, Jian J; Fu, Jing J; Chen, Lei L; Yuan, Shengxian S; Liang, Guibai G; Ji, Qunsheng Q; Chen, Shu-Hui SH; Chan, Chi-Chung CC; Zhou, Weiping W; Xu, Xiaowei X; Wang, Hongyang H; Fang, Douglas D DD
Publication Date: 2015-08-21

Variant appearance in text: VWF: D796N
PubMed Link: 26062443
Variant Present in the following documents:
  • oncotarget-06-20160-s004.xlsx, sheet 1
View BVdb publication page