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TTN c.409T>C ;(p.F137L)
Variant ID: 2-179665296-A-G
NM_001267550.1(
TTN
):c.409T>C;(p.F137L)
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:
Oxygen Activation and Radical Transformations in Heme Proteins and Metalloporphyrins.
Chemical Reviews
Huang, Xiongyi X; Groves, John T JT
Publication Date: 2018-03-14
Variant appearance in text: TTN: F137L
PubMed Link:
29286645
Variant Present in the following documents:
Main text
cr7b00373.pdf
View BVdb publication page
Acetylcholine receptor gating at extracellular transmembrane domain interface: the cys-loop and M2-M3 linker.
The Journal Of General Physiology
Jha, Archana A; Cadugan, David J DJ; Purohit, Prasad P; Auerbach, Anthony A
Publication Date: 2007-12
Variant appearance in text: TMD: F137L
PubMed Link:
18040057
Variant Present in the following documents:
Main text
jgp1300547.pdf
View BVdb publication page