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TSC2 c.398A>T ;(p.N133I)
Variant ID: 16-2104358-A-T
NM_000548.3(
TSC2
):c.398A>T;(p.N133I)
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:
The Emerging Role of Rab5 in Membrane Receptor Trafficking and Signaling Pathways.
Biochemistry Research International
Yuan, Wanqiong W; Song, Chunli C
Publication Date: 2020
Variant appearance in text: tuberin: N133I
PubMed Link:
32104603
Variant Present in the following documents:
Main text
BRI2020-4186308.pdf
View BVdb publication page
Nerve growth factor-mediated neurite outgrowth via regulation of Rab5.
Molecular Biology Of The Cell
Liu, Jay J; Lamb, Darija D; Chou, Margaret M MM; Liu, Yong-Jian YJ; Li, Guangpu G
Publication Date: 2007-04
Variant appearance in text: TSC2: N133I
PubMed Link:
17267689
Variant Present in the following documents:
Main text
View BVdb publication page