VWF c.8368_8370delinsCAA ;(p.N2790Q)

Variant ID: 12-6058253-ATT-TTG

NM_000552.3(VWF):c.8368_8370delinsCAA;(p.N2790Q)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mutation of N-linked glycosylation at Asn548 in CD133 decreases its ability to promote hepatoma cell growth.

Oncotarget
Liu, Ying Y; Ren, Shifang S; Xie, Liqi L; Cui, Chunhong C; Xing, Yang Y; Liu, Chanjuan C; Cao, Benjin B; Yang, Fan F; Li, Yinan Y; Chen, Xiaoning X; Wei, Yuanyan Y; Lu, Haojie H; Jiang, Jianhai J
Publication Date: 2015-08-21

Variant appearance in text: VWF: N2790Q
PubMed Link: 26029999
Variant Present in the following documents:
  • Main text
  • oncotarget-06-20650.pdf
View BVdb publication page



von Willebrand's disease: a report from a meeting in the Ă…land islands.

Haemophilia : The Official Journal Of The World Federation Of Hemophilia
Berntorp, E E; Peake, I I; Budde, U U; Laffan, M M; Montgomery, R R; Windyga, J J; Goodeve, A A; Petrini, P P; von Depka, M M; Miesbach, W W; Lillicrap, D D; Federici, A B AB; Lassila, R R; White, G G
Publication Date: 2012-09

Variant appearance in text: VWF: N2790Q
PubMed Link: 22906074
Variant Present in the following documents:
  • Main text
View BVdb publication page