RUNX2 c.199_201delinsAAC ;(p.Q67N)

Variant ID: 6-45390470-CAG-AAC

NM_001024630.3(RUNX2):c.199_201delinsAAC;(p.Q67N)

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 Crystal Structure of a hCA VII Variant Provides Insights into the Molecular Determinants Responsible for Its Catalytic Behavior.

International Journal Of Molecular Sciences
Buonanno, Martina M; Di Fiore, Anna A; Langella, Emma E; D'Ambrosio, Katia K; Supuran, Claudiu T CT; Monti, Simona Maria SM; De Simone, Giuseppina G
Publication Date: 2018-05-24

Variant appearance in text: CCD: Q67N
PubMed Link: 29795045
Variant Present in the following documents:
  • Main text
  • ijms-19-01571.pdf
View BVdb publication page