RUNX2 c.1452T>A ;(p.N484K)

Variant ID: 6-45514928-T-A

NM_001024630.3(RUNX2):c.1452T>A;(p.N484K)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


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: CCD: N484K
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.

American Journal Of Human Genetics
Hinek, A A; Zhang, S S; Smith, A C AC; Callahan, J W JW
Publication Date: 2000-07

Variant appearance in text: CCD: N484K
PubMed Link: 10841810
Variant Present in the following documents:
  • Main text
View BVdb publication page