TSC2 c.731G>A ;(p.C244Y)

Variant ID: 16-2106727-G-A

NM_000548.3(TSC2):c.731G>A;(p.C244Y)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Architecture of the Tuberous Sclerosis Protein Complex.

Journal Of Molecular Biology
Ramlaul, Kailash K; Fu, Wencheng W; Li, Hua H; de Martin Garrido, Natàlia N; He, Lin L; Trivedi, Manjari M; Cui, Wei W; Aylett, Christopher H S CHS; Wu, Geng G
Publication Date: 2021-01-22

Variant appearance in text: TSC2: C244Y
PubMed Link: 33307091
Variant Present in the following documents:
  • mmc1.pdf
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: C244Y
PubMed Link: 27493206
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: C244Y
PubMed Link: 23514105
Variant Present in the following documents:
  • 2040-2392-4-5-S5.xls, sheet 1
View BVdb publication page



Candidate single nucleotide polymorphism markers for arsenic responsiveness of protein targets.

Bioinformatics And Biology Insights
Isokpehi, Raphael D RD; Cohly, Hari H P HH; Anyanwu, Matthew N MN; Rajnarayanan, Rajendram V RV; Tchounwou, Paul B PB; Udensi, Udensi K UK; Graham-Evans, Barbara E BE
Publication Date: 2010-10-11

Variant appearance in text: TSC2: C244Y
PubMed Link: 20981267
Variant Present in the following documents:
  • BBI-4-supplementary.xls, sheet 3
View BVdb publication page