RUNX2 c.476G>T ;(p.G159V)

Variant ID: 6-45399652-G-T

NM_001024630.3(RUNX2):c.476G>T;(p.G159V)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

The large extracellular loop of organic cation transporter 1 influences substrate affinity and is pivotal for oligomerization.

The Journal Of Biological Chemistry
Keller, Thorsten T; Egenberger, Brigitte B; Gorboulev, Valentin V; Bernhard, Frank F; Uzelac, Zeljko Z; Gorbunov, Dmitry D; Wirth, Christophe C; Koppatz, Stefan S; Dötsch, Volker V; Hunte, Carola C; Sitte, Harald H HH; Koepsell, Hermann H
Publication Date: 2011-10-28

Variant appearance in text: CCD: G159V
PubMed Link: 21896487
Variant Present in the following documents:
  • Main text
View BVdb publication page