RUNX2 c.421A>C ;(p.K141Q)

Variant ID: 6-45390692-A-C

NM_001024630.3(RUNX2):c.421A>C;(p.K141Q)

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:

Abnormal interaction of motor neuropathy-associated mutant HspB8 (Hsp22) forms with the RNA helicase Ddx20 (gemin3).

Cell Stress & Chaperones
Sun, Xiankui X; Fontaine, Jean-Marc JM; Hoppe, Adam D AD; Carra, Serena S; DeGuzman, Cheryl C; Martin, Jody L JL; Simon, Stephanie S; Vicart, Patrick P; Welsh, Michael J MJ; Landry, Jacques J; Benndorf, Rainer R
Publication Date: 2010-09

Variant appearance in text: CCD: K141Q
PubMed Link: 20157854
Variant Present in the following documents:
  • Main text
View BVdb publication page