TSC2 c.82_84delinsATG ;(p.P28M)

Variant ID: 16-2098698-CCC-ATG

NM_000548.3(TSC2):c.82_84delinsATG;(p.P28M)

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:

Signaling networks converge on TORC1-SREBP activity to promote endoplasmic reticulum homeostasis.

Plos One
Sanchez-Alvarez, Miguel M; Finger, Fabian F; Arias-Garcia, Maria del Mar Mdel M; Bousgouni, Vicky V; Pascual-Vargas, Patricia P; Bakal, Chris C
Publication Date: 2014

Variant appearance in text: TSC2: p28M
PubMed Link: 25007267
Variant Present in the following documents:
  • Main text
  • pone.0101164.pdf
View BVdb publication page