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EGF c.2239_2241delinsGAG ;(p.Y747E)
Variant ID: 4-110901999-TAT-GAG
NM_001963.4(
EGF
):c.2239_2241delinsGAG;(p.Y747E)
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:
Structural basis for the activation of PLC-γ isozymes by phosphorylation and cancer-associated mutations.
Elife
Hajicek, Nicole N; Keith, Nicholas C NC; Siraliev-Perez, Edhriz E; Temple, Brenda Rs BR; Huang, Weigang W; Zhang, Qisheng Q; Harden, T Kendall TK; Sondek, John J
Publication Date: 2019-12-31
Variant appearance in text: EGF: Y747E
PubMed Link:
31889510
Variant Present in the following documents:
Main text
elife-51700.pdf
View BVdb publication page
Autoinhibition and phosphorylation-induced activation of phospholipase C-γ isozymes.
Biochemistry
Hajicek, Nicole N; Charpentier, Thomas H TH; Rush, Jeremy R JR; Harden, T Kendall TK; Sondek, John J
Publication Date: 2013-07-16
Variant appearance in text: EGF: Y747E
PubMed Link:
23777354
Variant Present in the following documents:
Main text
View BVdb publication page