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CD4 c.1057_1058delinsCT ;(p.K353L)
Variant ID: 12-6926397-AA-CT
NM_000616.4(
CD4
):c.1057_1058delinsCT;(p.K353L)
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:
The MX-Helix of Muscle nAChR Subunits Regulates Receptor Assembly and Surface Trafficking.
Frontiers In Molecular Neuroscience
Rudell, Jolene Chang JC; Borges, Lucia Soares LS; Yarov-Yarovoy, Vladimir V; Ferns, Michael M
Publication Date: 2020
Variant appearance in text: CD4: K353L
PubMed Link:
32265653
Variant Present in the following documents:
Main text
fnmol-13-00048.pdf
View BVdb publication page
Determinants in the β and δ subunit cytoplasmic loop regulate Golgi trafficking and surface expression of the muscle acetylcholine receptor.
The Journal Of Biological Chemistry
Rudell, Jolene Chang JC; Borges, Lucia S LS; Rudell, John B JB; Beck, Kenneth A KA; Ferns, Michael J MJ
Publication Date: 2014-01-03
Variant appearance in text: CD4: K353L
PubMed Link:
24240098
Variant Present in the following documents:
Main text
View BVdb publication page