TERT c.338A>C ;(p.E113A)

Variant ID: 5-1294663-T-G

NM_198253.2(TERT):c.338A>C;(p.E113A)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genomic clonal evolution correlated with phenotype and prognosis in gastric cancer.

Clinical And Translational Medicine
Ge, Jie J; Li, Xuan X; Deng, Zhenghao Z; Gao, Xuan X; Liu, Yaoyao Y; Xiong, Xingui X; Zhao, Xianhui X; Peng, Huan H; Yi, Xin X; Xia, Xuefeng X; Chen, Zihua Z; Li, Lifeng L; Zhou, Haiyan H; Liu, Heli H
Publication Date: 2022-04

Variant appearance in text: TERT: 338A>C; E113A
PubMed Link: 35384329
Variant Present in the following documents:
  • CTM2-12-e799-s006.xlsx, sheet 2
View BVdb publication page



The N-terminus of hTERT contains a DNA-binding domain and is required for telomerase activity and cellular immortalization.

Nucleic Acids Research
Sealey, David C F DC; Zheng, Le L; Taboski, Michael A S MA; Cruickshank, Jennifer J; Ikura, Mitsuhiko M; Harrington, Lea A LA
Publication Date: 2010-04

Variant appearance in text: TERT: E113A
PubMed Link: 20034955
Variant Present in the following documents:
  • Main text
  • gkp1160.pdf
View BVdb publication page