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TTN c.34_35delinsGC ;(p.L12A)
Variant ID: 2-179669335-AA-GC
NM_001267550.1(
TTN
):c.34_35delinsGC;(p.L12A)
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:
Pen-2 is essential for γ-secretase complex stability and trafficking but partially dispensable for endoproteolysis.
Biochemistry
Holmes, Oliver O; Paturi, Swetha S; Selkoe, Dennis J DJ; Wolfe, Michael S MS
Publication Date: 2014-07-15
Variant appearance in text: TMD: L12A
PubMed Link:
24941111
Variant Present in the following documents:
Main text
bi500489j.pdf
View BVdb publication page
The dimeric transmembrane domain of prolyl dipeptidase DPP-IV contributes to its quaternary structure and enzymatic activities.
Protein Science : A Publication Of The Protein Society
Chung, Kuei-Min KM; Cheng, Jai-Hong JH; Suen, Ching-Shu CS; Huang, Chih-Hsiang CH; Tsai, Cheng-Han CH; Huang, Li-Hao LH; Chen, Yi-Rong YR; Wang, Andrew H-J AH; Jiaang, Weir-Torn WT; Hwang, Ming-Jing MJ; Chen, Xin X
Publication Date: 2010-09
Variant appearance in text: TMD: L12A
PubMed Link:
20572019
Variant Present in the following documents:
Main text
View BVdb publication page