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TERT c.314A>C ;(p.D105A)
Variant ID: 5-1294687-T-G
NM_198253.2(
TERT
):c.314A>C;(p.D105A)
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:
Highly similar structural frames link the template tunnel and NTP entry tunnel to the exterior surface in RNA-dependent RNA polymerases.
Nucleic Acids Research
Lang, Dorothy M DM; Zemla, A T AT; Zhou, C L Ecale CL
Publication Date: 2013-02-01
Variant appearance in text: TERT: D105A
PubMed Link:
23275546
Variant Present in the following documents:
Main text
gks1251.pdf
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: D105A
PubMed Link:
20034955
Variant Present in the following documents:
Main text
gkp1160.pdf
View BVdb publication page