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TSC2 c.1252_1253delinsCC ;(p.R418P)
Variant ID: 16-2112004-AG-CC
NM_000548.3(
TSC2
):c.1252_1253delinsCC;(p.R418P)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Insulin signaling regulates neurite growth during metamorphic neuronal remodeling.
Biology Open
Gu, Tingting T; Zhao, Tao T; Hewes, Randall S RS
Publication Date: 2014-01-15
Variant appearance in text: TSC2: R418P
PubMed Link:
24357229
Variant Present in the following documents:
Main text
View BVdb publication page
Two-tiered control of epithelial growth and autophagy by the insulin receptor and the ret-like receptor, stitcher.
Plos Biology
O'Farrell, Fergal F; Wang, Shenqiu S; Katheder, Nadja N; Rusten, Tor Erik TE; Samakovlis, Christos C
Publication Date: 2013-07
Variant appearance in text: TSC2: R418P
PubMed Link:
23935447
Variant Present in the following documents:
pbio.1001612.pdf
View BVdb publication page