RUNX2 c.1012C>A ;(p.R338S)

Variant ID: 6-45480135-C-A

NM_001024630.3(RUNX2):c.1012C>A;(p.R338S)

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:

Crystal structure of biotin carboxylase in complex with substrates and implications for its catalytic mechanism.

The Journal Of Biological Chemistry
Chou, Chi-Yuan CY; Yu, Linda P C LP; Tong, Liang L
Publication Date: 2009-04-24

Variant appearance in text: CCD: R338S
PubMed Link: 19213731
Variant Present in the following documents:
  • Main text
View BVdb publication page