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EGFR c.1250T>A ;(p.L417H)
Variant ID: 7-55225398-T-A
NM_005228.3(
EGFR
):c.1250T>A;(p.L417H)
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:
Basic Amino Acids Within the Juxtamembrane Domain of the Epidermal Growth Factor Receptor Regulate Receptor Dimerization and Auto-phosphorylation.
The Protein Journal
Mohr, Jordan D JD; Wagenknecht-Wiesner, Alice A; Holowka, David A DA; Baird, Barbara A BA
Publication Date: 2020-10
Variant appearance in text: EGFR: L417H
PubMed Link:
33211253
Variant Present in the following documents:
Main text
View BVdb publication page