VWF c.469A>G ;(p.K157E)

Variant ID: 12-6219603-T-C

NM_000552.3(VWF):c.469A>G;(p.K157E)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports
Wang, Meng M; Wei, Liping L
Publication Date: 2016-08-16

Variant appearance in text: VWF: K157E
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s3.xls, sheet 1
View BVdb publication page



Mutations in the D1 domain of von Willebrand factor impair their propeptide-dependent multimerization, intracellular trafficking and secretion.

Journal Of Hematology & Oncology
Yin, Jie J; Ma, Zhenni Z; Su, Jian J; Wang, Jiong-Wei JW; Zhao, Xiaojuan X; Ling, Jing J; Bai, Xia X; Ouyang, Wanyan W; Wang, Zhaoyue Z; Yu, Ziqiang Z; Ruan, Changgeng C
Publication Date: 2015-06-20

Variant appearance in text: VWF: Lys157Glu
PubMed Link: 26088471
Variant Present in the following documents:
  • Main text
  • 13045_2015_Article_166.pdf
View BVdb publication page