TSC2 c.1911C>T ;(p.V637=)

Variant ID: 16-2121582-C-T

NM_000548.3(TSC2):c.1911C>T;(p.V637=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Mutational analysis of renal angiomyolipoma associated with tuberous sclerosis complex and the outcome of short-term everolimus therapy.

Scientific Reports
Ni, Jianxin J; Yan, Fengqi F; Qin, Weijun W; Yu, Lei L; Zhang, Geng G; Liu, Fei F; Yang, Xiaojian X; Yang, Bo B; Hao, Chunlin C; Wang, Teng T; Liu, Pengfei P; Yuan, Jianlin J; Wu, Guojun G
Publication Date: 2019-10-04

Variant appearance in text: TSC2: Val637Val
PubMed Link: 31586081
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_49814.pdf
View BVdb publication page



NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology
Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G
Publication Date: 2017-04

Variant appearance in text: TSC2: 1911C>T; V637V
PubMed Link: 28267273
Variant Present in the following documents:
  • MOL2-11-438-s003.xls, sheet 1
View BVdb publication page