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TSC2 c.1618T>G ;(p.S540A)
Variant ID: 16-2115538-T-G
NM_000548.3(
TSC2
):c.1618T>G;(p.S540A)
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:
Pam (Protein associated with Myc) functions as an E3 ubiquitin ligase and regulates TSC/mTOR signaling.
Cellular Signalling
Han, Sangyeul S; Witt, Rochelle M RM; Santos, TĂșlio M TM; Polizzano, Carolyn C; Sabatini, Bernardo L BL; Ramesh, Vijaya V
Publication Date: 2008-06
Variant appearance in text: TSC2: S540A
PubMed Link:
18308511
Variant Present in the following documents:
Main text
View BVdb publication page