TSC2 c.250G>A ;(p.A84T)

Variant ID: 16-2103367-G-A

NM_000548.3(TSC2):c.250G>A;(p.A84T)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Human Lung Adenocarcinoma-Derived Organoid Models for Drug Screening.

Iscience
Li, Zhichao Z; Qian, Youhui Y; Li, Wujiao W; Liu, Lisa L; Yu, Lei L; Liu, Xia X; Wu, Guodong G; Wang, Youyu Y; Luo, Weibin W; Fang, Fuyuan F; Liu, Yuchen Y; Song, Fei F; Cai, Zhiming Z; Chen, Wei W; Huang, Weiren W
Publication Date: 2020-08-21

Variant appearance in text: TSC2: Ala84Thr
PubMed Link: 32771979
Variant Present in the following documents:
  • mmc2.xls, sheet 1
View BVdb publication page



Comparison of the functional and structural characteristics of rare TSC2 variants with clinical and genetic findings.

Human Mutation
Dufner Almeida, Luiz G LG; Nanhoe, Santoesha S; Zonta, Andrea A; Hosseinzadeh, Mitra M; Kom-Gortat, Regina R; Elfferich, Peter P; Schaaf, Gerben G; Kenter, Annegien A; Kümmel, Daniel D; Migone, Nicola N; Povey, Sue S; Ekong, Rosemary R; Nellist, Mark M
Publication Date: 2020-04

Variant appearance in text: TSC2: 250G>A; A84T
PubMed Link: 31799751
Variant Present in the following documents:
  • Main text
  • HUMU-41-759.pdf
View BVdb publication page