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TTN c.820A>G ;(p.K274E)
Variant ID: 2-179664308-T-C
NM_001267550.1(
TTN
):c.820A>G;(p.K274E)
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:
Talin activates integrins by altering the topology of the β transmembrane domain.
The Journal Of Cell Biology
Kim, Chungho C; Ye, Feng F; Hu, Xiaohui X; Ginsberg, Mark H MH
Publication Date: 2012-05-28
Variant appearance in text: TMD: K274E
PubMed Link:
22641344
Variant Present in the following documents:
Main text
JCB_201112141.pdf
View BVdb publication page