PIK3CA c.667G>T ;(p.E223*)

Variant ID: 3-178919182-G-T

NM_006218.2(PIK3CA):c.667G>T;(p.E223*)

This variant was identified in 1 publication

View GRCh38 version.



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

Publications:

Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases.

International Journal Of Molecular Sciences
Meunier, Justine J; Villar-Quiles, Rocio-Nur RN; Duband-Goulet, Isabelle I; Ferreiro, Ana A
Publication Date: 2021-06-03

Variant appearance in text: PI3K: Glu223Ter
PubMed Link: 34204919
Variant Present in the following documents:
  • Main text
  • ijms-22-06039.pdf
View BVdb publication page