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TSC2 c.1219T>G ;(p.Y407D)
Variant ID: 16-2111971-T-G
NM_000548.3(
TSC2
):c.1219T>G;(p.Y407D)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Systematic analysis of the intersection of disease mutations with protein modifications.
Bmc Medical Genomics
Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F
Publication Date: 2019-07-25
Variant appearance in text: TSC2: Y407D
PubMed Link:
31345222
Variant Present in the following documents:
12920_2019_543_MOESM6_ESM.xlsx, sheet 3
View BVdb publication page
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: Y407D
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: Y407D
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page