TERT c.763T>G ;(p.S255A)

Variant ID: 5-1294238-A-C

NM_198253.2(TERT):c.763T>G;(p.S255A)

This variant was identified in 1 publication

View GRCh38 version.



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

Publications:

Shwachman-Diamond Syndrome Protein SBDS Maintains Human Telomeres by Regulating Telomerase Recruitment.

Cell Reports
Liu, Yi Y; Liu, Feng F; Cao, Yizhao Y; Xu, Huimin H; Wu, Yangxiu Y; Wu, Su S; Liu, Dan D; Zhao, Yong Y; Songyang, Zhou Z; Ma, Wenbin W
Publication Date: 2018-02-13

Variant appearance in text: TERT: S255A
PubMed Link: 29444436
Variant Present in the following documents:
  • Main text
View BVdb publication page