RUNX2 c.442_443delinsCC ;(p.V148P)

Variant ID: 6-45399618-GT-CC

NM_001024630.3(RUNX2):c.442_443delinsCC;(p.V148P)

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:

Presenilin-like GxGD membrane proteases have dual roles as proteolytic enzymes and ion channels.

The Journal Of Biological Chemistry
Kuo, Ivana Y IY; Hu, Jian J; Ha, Ya Y; Ehrlich, Barbara E BE
Publication Date: 2015-03-06

Variant appearance in text: CCD: V148P
PubMed Link: 25609250
Variant Present in the following documents:
  • Main text
View BVdb publication page