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MUC16 c.19942G>A ;(p.E6648K)
Variant ID: 19-9067504-C-T
NM_024690.2(
MUC16
):c.19942G>A;(p.E6648K)
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:
Genetic Factors in Antiphospholipid Syndrome: Preliminary Experience with Whole Exome Sequencing.
International Journal Of Molecular Sciences
Barinotti, Alice A; Radin, Massimo M; Cecchi, Irene I; Foddai, Silvia Grazietta SG; Rubini, Elena E; Roccatello, Dario D; Sciascia, Savino S; Menegatti, Elisa E
Publication Date: 2020-12-15
Variant appearance in text: MUC16: Glu6648Lys; rs200972932
PubMed Link:
33333988
Variant Present in the following documents:
Main text
ijms-21-09551.pdf
View BVdb publication page
TraPS-VarI: Identifying genetic variants altering phosphotyrosine based signalling motifs.
Scientific Reports
Ulaganathan, Vijay Kumar VK
Publication Date: 2020-05-21
Variant appearance in text: rs200972932
PubMed Link:
32439998
Variant Present in the following documents:
41598_2020_65146_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page