VWF c.4165G>C ;(p.E1389Q)

Variant ID: 12-6128419-C-G

NM_000552.3(VWF):c.4165G>C;(p.E1389Q)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: VWF: 4165G>C
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Crystal structure of ADAMTS13 CUB domains reveals their role in global latency.

Science Advances
Kim, H J HJ; Xu, Y Y; Petri, A A; Vanhoorelbeke, K K; Crawley, J T B JTB; Emsley, J J
Publication Date: 2021-04

Variant appearance in text: VWF: E1389Q
PubMed Link: 33863735
Variant Present in the following documents:
  • Main text
  • abg4403.pdf
View BVdb publication page



Crystal structure of ADAMTS13 CUB domains reveals their role in global latency.

Science Advances
Kim, H J HJ; Xu, Y Y; Petri, A A; Vanhoorelbeke, K K; Crawley, J T B JTB; Emsley, J J
Publication Date: 2021-04

Variant appearance in text: VWF: E1389Q
PubMed Link: 33863735
Variant Present in the following documents:
  • Main text
  • abg4403.pdf
View BVdb publication page



Comprehensive genetic analysis of complement and coagulation genes in atypical hemolytic uremic syndrome.

Journal Of The American Society Of Nephrology : Jasn
Bu, Fengxiao F; Maga, Tara T; Meyer, Nicole C NC; Wang, Kai K; Thomas, Christie P CP; Nester, Carla M CM; Smith, Richard J H RJ
Publication Date: 2014-01

Variant appearance in text: VWF: 4165G>C; E1389Q
PubMed Link: 24029428
Variant Present in the following documents:
  • Main text
View BVdb publication page