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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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