TSC2 c.833A>C ;(p.H278P)

Variant ID: 16-2107164-A-C

NM_000548.3(TSC2):c.833A>C;(p.H278P)

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: TSC2: H278P
PubMed Link: 27493206
Variant Present in the following documents:
  • Main text
View BVdb publication page