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PRRT2 c.364_365delinsGC ;(p.Q122A)
Variant ID: 16-29824739-CA-GC
NM_145239.2(
PRRT2
):c.364_365delinsGC;(p.Q122A)
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:
Global conformational rearrangements during the activation of the GDP/GTP exchange factor Vav3.
The Embo Journal
Llorca, Oscar O; Arias-Palomo, Ernesto E; Zugaza, José L JL; Bustelo, Xosé R XR
Publication Date: 2005-04-06
Variant appearance in text: PKC: Q122A
PubMed Link:
15775967
Variant Present in the following documents:
Main text
View BVdb publication page