VANGL1 c.1057_1059delinsTGT ;(p.R353C)

Variant ID: 1-116226675-CGA-TGT

NM_138959.2(VANGL1):c.1057_1059delinsTGT;(p.R353C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Update on the Role of the Non-Canonical Wnt/Planar Cell Polarity Pathway in Neural Tube Defects.

Cells
Wang, Mingqin M; Marco, Patrizia de P; Capra, Valeria V; Kibar, Zoha Z
Publication Date: 2019-10-04

Variant appearance in text: VANGL1: Arg353Cys
PubMed Link: 31590237
Variant Present in the following documents:
  • cells-08-01198.pdf
View BVdb publication page



The intracellular carboxyl terminal domain of Vangl proteins contains plasma membrane targeting signals.

Protein Science : A Publication Of The Protein Society
Iliescu, Alexandra A; Gros, Philippe P
Publication Date: 2014-04

Variant appearance in text: VANGL1: R353C
PubMed Link: 24452931
Variant Present in the following documents:
  • Main text
View BVdb publication page