RUNX2 c.140C>A ;(p.A47D)

Variant ID: 6-45390411-C-A

NM_001024630.3(RUNX2):c.140C>A;(p.A47D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Raman spectroscopic analysis of skin as a diagnostic tool for Human African Trypanosomiasis.

Plos Pathogens
Girard, Alexandre A; Cooper, Anneli A; Mabbott, Samuel S; Bradley, Barbara B; Asiala, Steven S; Jamieson, Lauren L; Clucas, Caroline C; Capewell, Paul P; Marchesi, Francesco F; Gibbins, Matthew P MP; Hentzschel, Franziska F; Marti, Matthias M; Quintana, Juan F JF; Garside, Paul P; Faulds, Karen K; MacLeod, Annette A; Graham, Duncan D
Publication Date: 2021-11

Variant appearance in text: CCD: A47D
PubMed Link: 34780575
Variant Present in the following documents:
  • Main text
View BVdb publication page



CCDC61/VFL3 Is a Paralog of SAS6 and Promotes Ciliary Functions.

Structure (London, England : 1993)
Ochi, Takashi T; Quarantotti, Valentina V; Lin, Huawen H; Jullien, Jerome J; Rosa E Silva, Ivan I; Boselli, Francesco F; Barnabas, Deepak D DD; Johnson, Christopher M CM; McLaughlin, Stephen H SH; Freund, Stefan M V SMV; Blackford, Andrew N AN; Kimata, Yuu Y; Goldstein, Raymond E RE; Jackson, Stephen P SP; Blundell, Tom L TL; Dutcher, Susan K SK; Gergely, Fanni F; van Breugel, Mark M
Publication Date: 2020-06-02

Variant appearance in text: CCD: A47D
PubMed Link: 32375023
Variant Present in the following documents:
  • Main text
View BVdb publication page