PIK3CA c.2845_2847delinsTGT ;(p.R949C)

Variant ID: 3-178948073-CGA-TGT

NM_006218.2(PIK3CA):c.2845_2847delinsTGT;(p.R949C)

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:

Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis.

International Journal Of Molecular Sciences
Lee, Wei Shern WS; Baldassari, Sara S; Stephenson, Sarah E M SEM; Lockhart, Paul J PJ; Baulac, Stéphanie S; Leventer, Richard J RJ
Publication Date: 2022-01-25

Variant appearance in text: PIK3CA: Arg949Cys
PubMed Link: 35163267
Variant Present in the following documents:
  • Main text
  • ijms-23-01344.pdf
View BVdb publication page


Cortical Dysplasia and the mTOR Pathway: How the Study of Human Brain Tissue Has Led to Insights into Epileptogenesis.

International Journal Of Molecular Sciences
Lee, Wei Shern WS; Baldassari, Sara S; Stephenson, Sarah E M SEM; Lockhart, Paul J PJ; Baulac, Stéphanie S; Leventer, Richard J RJ
Publication Date: 2022-01-25

Variant appearance in text: PIK3CA: Arg949Cys
PubMed Link: 35163267
Variant Present in the following documents:
  • Main text
  • ijms-23-01344.pdf
View BVdb publication page