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TSC2 c.1165_1166delinsGA ;(p.T389D)
Variant ID: 16-2111917-AC-GA
NM_000548.3(
TSC2
):c.1165_1166delinsGA;(p.T389D)
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:
mTORC1 dependent regulation of REDD1 protein stability.
Plos One
Tan, Chia Yee CY; Hagen, Thilo T
Publication Date: 2013
Variant appearance in text: TSC2: T389D
PubMed Link:
23717519
Variant Present in the following documents:
Main text
pone.0063970.pdf
View BVdb publication page