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RET c.2201A>C ;(p.E734A)
Variant ID: 10-43612096-A-C
NM_020975.4(
RET
):c.2201A>C;(p.E734A)
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:
Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.
Scientific Reports
Šimčíková, Daniela D; Heneberg, Petr P
Publication Date: 2019-12-09
Variant appearance in text: RET: E734A
PubMed Link:
31819097
Variant Present in the following documents:
41598_2019_54976_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page
Oncogenic RET kinase domain mutations perturb the autophosphorylation trajectory by enhancing substrate presentation in trans.
Molecular Cell
Plaza-Menacho, Iván I; Barnouin, Karin K; Goodman, Kerry K; Martínez-Torres, Rubén J RJ; Borg, Annabel A; Murray-Rust, Judith J; Mouilleron, Stephane S; Knowles, Phillip P; McDonald, Neil Q NQ
Publication Date: 2014-03-06
Variant appearance in text: RET: E734A
PubMed Link:
24560924
Variant Present in the following documents:
Main text
mmc1.pdf
View BVdb publication page