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.




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
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