TSC2 c.1082T>C ;(p.L361P)

Variant ID: 16-2110777-T-C

NM_000548.3(TSC2):c.1082T>C;(p.L361P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Structure of the Tuberous Sclerosis Complex 2 (TSC2) N Terminus Provides Insight into Complex Assembly and Tuberous Sclerosis Pathogenesis.

The Journal Of Biological Chemistry
Zech, Reinhard R; Kiontke, Stephan S; Mueller, Uwe U; Oeckinghaus, Andrea A; Kümmel, Daniel D
Publication Date: 2016-09-16

Variant appearance in text: TSC2: L361P
PubMed Link: 27493206
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: TSC2: L361P; rs45517147
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page