VANGL1 c.1404T>A ;(p.D468E)

Variant ID: 1-116233829-T-A

NM_138959.2(VANGL1):c.1404T>A;(p.D468E)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Human gastric cancer modelling using organoids.

Gut
Seidlitz, Therese T; Merker, Sebastian R SR; Rothe, Alexander A; Zakrzewski, Falk F; von Neubeck, Cläre C; Grützmann, Konrad K; Sommer, Ulrich U; Schweitzer, Christine C; Schölch, Sebastian S; Uhlemann, Heike H; Gaebler, Anne-Marlene AM; Werner, Kristin K; Krause, Mechthild M; Baretton, Gustavo B GB; Welsch, Thilo T; Koo, Bon-Kyoung BK; Aust, Daniela E DE; Klink, Barbara B; Weitz, Jürgen J; Stange, Daniel E DE
Publication Date: 2019-02

Variant appearance in text: VANGL1: Asp468Glu
PubMed Link: 29703791
Variant Present in the following documents:
  • gutjnl-2017-314549supp010.xlsx, sheet 3
View BVdb publication page



Novel VANGL1 Gene Mutations in 144 Slovakian, Romanian and German Patients with Neural Tube Defects.

Molecular Syndromology
Bartsch, O O; Kirmes, I I; Thiede, A A; Lechno, S S; Gocan, H H; Florian, I S IS; Haaf, T T; Zechner, U U; Sabova, L L; Horn, F F
Publication Date: 2012-08

Variant appearance in text: VANGL1: Asp468Glu
PubMed Link: 23326252
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel mutations in VANGL1 in neural tube defects.

Human Mutation
Kibar, Zoha Z; Bosoi, Ciprian M CM; Kooistra, Megan M; Salem, Sandra S; Finnell, Richard H RH; De Marco, Patrizia P; Merello, Elisa E; Bassuk, Alexander G AG; Capra, Valeria V; Gros, Philippe P
Publication Date: 2009-07

Variant appearance in text: VANGL1: Asp468Glu
PubMed Link: 19319979
Variant Present in the following documents:
  • Main text
View BVdb publication page