TSC2 c.1790A>G ;(p.H597R)

Variant ID: 16-2120530-A-G

NM_000548.3(TSC2):c.1790A>G;(p.H597R)

This variant was identified in 5 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: H597R
PubMed Link: 33307091
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Integrated molecular characterization reveals potential therapeutic strategies for pulmonary sarcomatoid carcinoma.

Nature Communications
Yang, Zhenlin Z; Xu, Jiachen J; Li, Lin L; Li, Renda R; Wang, Yalong Y; Tian, Yanhua Y; Guo, Wei W; Wang, Zhijie Z; Tan, Fengwei F; Ying, Jianming J; Jiao, Yuchen Y; Gao, Shugeng S; Wang, Jie J; Gao, Yibo Y; He, Jie J
Publication Date: 2020-09-28

Variant appearance in text: TSC2: 1790A>G; His597Arg
PubMed Link: 32985499
Variant Present in the following documents:
  • 41467_2020_18702_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Germline mutation of TSC1 or TSC2 gene in Chinese patients with bilateral renal angiomyolipomas and mutation spectrum of Chinese TSC patients.

Aging
Jiangyi, Wang W; Gang, Guo G; Guohai, Shi S; Dingwei, Ye Y
Publication Date: 2020-01-12

Variant appearance in text: TSC2: 1790A>G
PubMed Link: 31927531
Variant Present in the following documents:
  • aging-12-102654-s001..xlsx, sheet 1
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: H597R
PubMed Link: 23514105
Variant Present in the following documents:
  • 2040-2392-4-5-S5.xls, sheet 1
View BVdb publication page



Determining the pathogenicity of patient-derived TSC2 mutations by functional characterization and clinical evidence.

European Journal Of Human Genetics : Ejhg
Dunlop, Elaine A EA; Dodd, Kayleigh M KM; Land, Stephen C SC; Davies, Peter A PA; Martins, Nicole N; Stuart, Helen H; McKee, Shane S; Kingswood, Chris C; Saggar, Anand A; Corderio, Isabel I; Medeira, Ana Maria Duarte AM; Kingston, Helen H; Sampson, Julian R JR; Davies, David Mark DM; Tee, Andrew R AR
Publication Date: 2011-07

Variant appearance in text: TSC2: H597R
PubMed Link: 21407264
Variant Present in the following documents:
  • Main text
View BVdb publication page