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EGF c.784_786delinsGAC ;(p.S262D)
Variant ID: 4-110866275-TCA-GAC
NM_001963.4(
EGF
):c.784_786delinsGAC;(p.S262D)
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:
Tau interacts with SHP2 in neuronal systems and in Alzheimer's disease brains.
Journal Of Cell Science
Kim, Yohan Y; Liu, Guanghao G; Leugers, Chad J CJ; Mueller, Joseph D JD; Francis, Meghan B MB; Hefti, Marco M MM; Schneider, Julie A JA; Lee, Gloria G
Publication Date: 2019-07-15
Variant appearance in text: EGF: S262D
PubMed Link:
31201283
Variant Present in the following documents:
Main text
View BVdb publication page
Phosphorylation of serine residues in the C-terminal cytoplasmic tail of connexin43 regulates proliferation of ovarian granulosa cells.
The Journal Of Membrane Biology
Dyce, Paul W PW; Norris, Rachael P RP; Lampe, Paul D PD; Kidder, Gerald M GM
Publication Date: 2012-06
Variant appearance in text: EGF: S262D
PubMed Link:
22729691
Variant Present in the following documents:
Main text
View BVdb publication page
Tau potentiates nerve growth factor-induced mitogen-activated protein kinase signaling and neurite initiation without a requirement for microtubule binding.
The Journal Of Biological Chemistry
Leugers, Chad J CJ; Lee, Gloria G
Publication Date: 2010-06-18
Variant appearance in text: EGF: S262D
PubMed Link:
20375017
Variant Present in the following documents:
Main text
View BVdb publication page