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ATM c.673_674delinsCC ;(p.S225P)
Variant ID: 11-108115525-AG-CC
NM_000051.3(
ATM
):c.673_674delinsCC;(p.S225P)
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:
An endoplasmic reticulum retention signal located in the extracellular amino-terminal domain of the NR2A subunit of N-Methyl-D-aspartate receptors.
The Journal Of Biological Chemistry
Qiu, Shuang S; Zhang, Xiao-min XM; Cao, Jing-yuan JY; Yang, Wei W; Yan, Ying-gang YG; Shan, Ling L; Zheng, Jie J; Luo, Jian-hong JH
Publication Date: 2009-07-24
Variant appearance in text: ATD: S225P
PubMed Link:
19487695
Variant Present in the following documents:
Main text
View BVdb publication page