PMFBP1 c.577G>T ;(p.E193*)

Variant ID: 16-72184566-C-A

NM_031293.2(PMFBP1):c.577G>T;(p.E193*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Plasma Levels of Risk-Variant APOL1 Do Not Associate with Renal Disease in a Population-Based Cohort.

Journal Of The American Society Of Nephrology : Jasn
Kozlitina, Julia J; Zhou, Haihong H; Brown, Patricia N PN; Rohm, Rory J RJ; Pan, Yi Y; Ayanoglu, Gulesi G; Du, Xiaoyan X; Rimmer, Eric E; Reilly, Dermot F DF; Roddy, Thomas P TP; Cully, Doris F DF; Vogt, Thomas F TF; Blom, Daniel D; Hoek, Maarten M
Publication Date: 2016-10

Variant appearance in text: rs35370634
PubMed Link: 27005919
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs35370634
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page