MED23 c.1849C>T ;(p.P617S)

Variant ID: 6-131924252-G-A

NM_004830.3(MED23):c.1849C>T;(p.P617S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.

Nature Neuroscience
Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA
Publication Date: 2016-11

Variant appearance in text: MED23: 1849C>T
PubMed Link: 27694994
Variant Present in the following documents:
  • NIHMS815183-supplement-supp_table3.xlsx, sheet 1
View BVdb publication page



Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology
Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP
Publication Date: 2015-03

Variant appearance in text: MED23: P617S
PubMed Link: 25794154
Variant Present in the following documents:
  • pcbi.1004147.s001.xlsx, sheet 1
View BVdb publication page