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TTN c.1769A>G ;(p.Q590R)
Variant ID: 2-179655466-T-C
NM_001267550.1(
TTN
):c.1769A>G;(p.Q590R)
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:
Q/R site interactions with the M3 helix in GluK2 kainate receptor channels revealed by thermodynamic mutant cycles.
The Journal Of General Physiology
Lopez, Melany N MN; Wilding, Timothy J TJ; Huettner, James E JE
Publication Date: 2013-09
Variant appearance in text: TMD: Q590R
PubMed Link:
23940260
Variant Present in the following documents:
Main text
JGP_201311000.pdf
View BVdb publication page