TSC2 c.410A>G ;(p.H137R)

Variant ID: 16-2104370-A-G

NM_000548.3(TSC2):c.410A>G;(p.H137R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: H137R; rs45517107
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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Lack of association of rare functional variants in TSC1/TSC2 genes with autism spectrum disorder.

Molecular Autism
Bahl, Samira S; Chiang, Colby C; Beauchamp, Roberta L RL; Neale, Benjamin M BM; Daly, Mark J MJ; Gusella, James F JF; Talkowski, Michael E ME; Ramesh, Vijaya V
Publication Date: 2013-03-20

Variant appearance in text: TSC2: H137R
PubMed Link: 23514105
Variant Present in the following documents:
  • 2040-2392-4-5-S5.xls, sheet 1
View BVdb publication page



Whole-exome sequencing studies of nonhereditary (sporadic) parathyroid adenomas.

The Journal Of Clinical Endocrinology And Metabolism
Newey, Paul J PJ; Nesbit, M Andrew MA; Rimmer, Andrew J AJ; Attar, Moustafa M; Head, Rosie T RT; Christie, Paul T PT; Gorvin, Caroline M CM; Stechman, Michael M; Gregory, Lorna L; Mihai, Radu R; Sadler, Greg G; McVean, Gil G; Buck, David D; Thakker, Rajesh V RV
Publication Date: 2012-10

Variant appearance in text: TSC2: H137R; rs45517107
PubMed Link: 22855342
Variant Present in the following documents:
  • Main text
View BVdb publication page