TSC2 c.4313G>C ;(p.R1438P)

Variant ID: 16-2134536-G-C

NM_000548.3(TSC2):c.4313G>C;(p.R1438P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs45448791
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



KLF3 and PAX6 are candidate driver genes in late-stage, MSI-hypermutated endometrioid endometrial carcinomas.

Plos One
Rudd, Meghan L ML; Hansen, Nancy F NF; Zhang, Xiaolu X; Urick, Mary Ellen ME; Zhang, Suiyuan S; Merino, Maria J MJ; , ; Mullikin, James C JC; Brody, Lawrence C LC; Bell, Daphne W DW
Publication Date: 2022

Variant appearance in text: rs45448791
PubMed Link: 35081118
Variant Present in the following documents:
  • pone.0251286.s005.xlsx, sheet 8
View BVdb publication page



Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine
Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ
Publication Date: 2017-07-14

Variant appearance in text: TSC2: R1438P
PubMed Link: 28706299
Variant Present in the following documents:
  • emm2017142x4.xls, sheet 1
View BVdb publication page