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.




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