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RUNX2 c.386A>T ;(p.H129L)
Variant ID: 6-45390657-A-T
NM_001024630.3(
RUNX2
):c.386A>T;(p.H129L)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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: H129L
PubMed Link:
26659599
Variant Present in the following documents:
pone.0144692.s002.xlsx, sheet 1
View BVdb publication page
Structural and functional analysis of Mre11-3.
Nucleic Acids Research
Arthur, L Matthew LM; Gustausson, Karin K; Hopfner, Karl-Peter KP; Carson, Christian T CT; Stracker, Travis H TH; Karcher, Annette A; Felton, Diana D; Weitzman, Matthew D MD; Tainer, John J; Carney, James P JP
Publication Date: 2004
Variant appearance in text: CCD: H129L
PubMed Link:
15047855
Variant Present in the following documents:
Main text
View BVdb publication page