TSC2 c.4780C>T ;(p.L1594=)

Variant ID: 16-2136311-C-T

NM_000548.3(TSC2):c.4780C>T;(p.L1594=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Comprehensive functional genomic analyses link APC somatic mutation and mRNA-miRNA networks to the clinical outcome of stage-III colorectal cancer patients.

Biomedical Journal
Chiang, Sum-Fu SF; Huang, Heng-Hsuan HH; Tsai, Wen-Sy WS; Chin-Ming Tan, Bertrand B; Yang, Chia-Yu CY; Huang, Po-Jung PJ; Yi-Feng Chang, Ian I; Lin, Jiarong J; Lu, Pei-Shan PS; Chin, En E; Liu, Yu-Hao YH; Yu, Jau-Song JS; Chiang, Jy-Ming JM; Hung, Hsin-Yuan HY; You, Jeng-Fu JF; Liu, Hsuan H
Publication Date: 2022-04

Variant appearance in text: TSC2: L1594L
PubMed Link: 35550340
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Two novel TSC2 mutations in renal epithelioid angiomyolipoma sensitive to everolimus.

Cancer Biology & Therapy
Wang, Tao T; Xie, Shunqiang S; Luo, Rongtuan R; Shi, Lianguo L; Bai, Peide P; Wang, Xuegang X; Wan, Rui R; Deng, Jiang J; Wu, Zhun Z; Li, Wei W; Xiao, Wen W; Wang, Yongfeng Y; Chen, Bin B; Zhang, Kaiyan K; Xing, Jinchun J
Publication Date: 2020

Variant appearance in text: TSC2: 4780C>T
PubMed Link: 31597506
Variant Present in the following documents:
  • Main text
View BVdb publication page