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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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