PIK3CA c.3206dup ;(p.*1069Wfs*4)

Variant ID: 3-178952150-T-TG

NM_006218.2(PIK3CA):c.3206dup;(p.*1069Wfs*4)

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:

Somatic frameshift mutation in PIK3CA causes CLOVES syndrome by provoking PI3K/AKT/mTOR pathway.

Hereditas
Yan, Wei W; Zhang, Bin B; Wang, Huijun H; Mo, Ran R; Jiang, Xingyuan X; Qin, Wen W; Ma, Lin L; Lin, Zhimiao Z
Publication Date: 2021-06-01

Variant appearance in text: PIK3CA: 3206_3207insG
PubMed Link: 34074347
Variant Present in the following documents:
  • Main text
  • 41065_2021_Article_184.pdf
View BVdb publication page