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ATM c.1996_1998delinsTGT ;(p.V666C)
Variant ID: 11-108124638-GTG-TGT
NM_000051.3(
ATM
):c.1996_1998delinsTGT;(p.V666C)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Auxiliary subunits keep AMPA receptors compact during activation and desensitization.
Elife
Baranovic, Jelena J; Plested, Andrew Jr AJ
Publication Date: 2018-12-06
Variant appearance in text: ATD: V666C
PubMed Link:
30520730
Variant Present in the following documents:
Main text
elife-40548.pdf
View BVdb publication page
Mechanism of partial agonism in AMPA-type glutamate receptors.
Nature Communications
Salazar, Hector H; Eibl, Clarissa C; Chebli, Miriam M; Plested, Andrew A
Publication Date: 2017-02-17
Variant appearance in text: ATD: V666C
PubMed Link:
28211453
Variant Present in the following documents:
ncomms14327.pdf
View BVdb publication page
A conformational intermediate in glutamate receptor activation.
Neuron
Lau, Albert Y AY; Salazar, Héctor H; Blachowicz, Lydia L; Ghisi, Valentina V; Plested, Andrew J R AJ; Roux, Benoît B
Publication Date: 2013-08-07
Variant appearance in text: ATD: V666C
PubMed Link:
23931998
Variant Present in the following documents:
Main text
View BVdb publication page