TSC2 c.1022_1023inv ;(p.S341W)

Variant ID: 16-2110717-CC-GG

NM_000548.3(TSC2):c.1022_1023inv;(p.S341W)

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:

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: tuberin: S341W
PubMed Link: 27493206
Variant Present in the following documents:
  • Main text
View BVdb publication page