TSC2 c.4252T>G ;(p.S1418A)

Variant ID: 16-2134475-T-G

NM_000548.3(TSC2):c.4252T>G;(p.S1418A)

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:

Akt-dependent activation of mTORC1 complex involves phosphorylation of mTOR (mammalian target of rapamycin) by IκB kinase α (IKKα).

The Journal Of Biological Chemistry
Dan, Han C HC; Ebbs, Aaron A; Pasparakis, Manolis M; Van Dyke, Terry T; Basseres, Daniela S DS; Baldwin, Albert S AS
Publication Date: 2014-09-05

Variant appearance in text: TSC2: S1418A
PubMed Link: 24990947
Variant Present in the following documents:
  • Main text
View BVdb publication page