VWF c.4285G>A ;(p.E1429K)

Variant ID: 12-6128299-C-T

NM_000552.3(VWF):c.4285G>A;(p.E1429K)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Intratumoral heterogeneity as a predictive biomarker in anti-PD-(L)1 therapies for non-small cell lung cancer.

Molecular Cancer
Fang, Wenfeng W; Jin, Haoxuan H; Zhou, Huaqiang H; Hong, Shaodong S; Ma, Yuxiang Y; Zhang, Yaxiong Y; Su, Xiaofan X; Chen, Longyun L; Yang, Yunpeng Y; Xu, Shengqiang S; Liao, Yuwei Y; He, Yuming Y; Zhao, Hongyun H; Huang, Yan Y; Gao, Zhibo Z; Zhang, Li L
Publication Date: 2021-02-23

Variant appearance in text: VWF: 4285G>A; Glu1429Lys
PubMed Link: 33622313
Variant Present in the following documents:
  • 12943_2021_1331_MOESM3_ESM.xlsx, sheet 4
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: E1429K
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology
Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G
Publication Date: 2017-04

Variant appearance in text: VWF: 4285G>A; E1429K
PubMed Link: 28267273
Variant Present in the following documents:
  • MOL2-11-438-s003.xls, sheet 1
View BVdb publication page



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: E1429K
PubMed Link: 24391089
Variant Present in the following documents:
  • Main text
View BVdb publication page