RUNX2 c.1181A>G ;(p.Y394C)

Variant ID: 6-45514657-A-G

NM_001024630.3(RUNX2):c.1181A>G;(p.Y394C)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Point mutation in the stop codon of MAV_RS14660 increases the growth rate of Mycobacterium avium subspecies hominissuis.

Microbiology (Reading, England)
Kawakita, Tomomi T; Mukai, Tetsu T; Yoshida, Mitsunori M; Yamada, Hiroyuki H; Nakayama, Masaaki M; Miyamoto, Yuji Y; Suzuki, Masato M; Nakata, Noboru N; Takii, Takemasa T; Ryo, Akihide A; Ohara, Naoya N; Ato, Manabu M
Publication Date: 2021-02

Variant appearance in text: CCD: 1181A>G
PubMed Link: 33357282
Variant Present in the following documents:
  • Main text
  • mic-167-007.pdf
View BVdb publication page



RUNX2-modifying enzymes: therapeutic targets for bone diseases.

Experimental & Molecular Medicine
Kim, Woo-Jin WJ; Shin, Hye-Lim HL; Kim, Bong-Soo BS; Kim, Hyun-Jung HJ; Ryoo, Hyun-Mo HM
Publication Date: 2020-08

Variant appearance in text: RUNX2: Y394C
PubMed Link: 32788656
Variant Present in the following documents:
  • Main text
  • 12276_2020_Article_471.pdf
View BVdb publication page



Developmental and Evolutionary Significance of the Zygomatic Bone.

Anatomical Record (Hoboken, N.J. : 2007)
Heuzé, Yann Y; Kawasaki, Kazuhiko K; Schwarz, Tobias T; Schoenebeck, Jeffrey J JJ; Richtsmeier, Joan T JT
Publication Date: 2016-12

Variant appearance in text: RUNX2: Y394C
PubMed Link: 27870340
Variant Present in the following documents:
  • AR-299-1616.pdf
View BVdb publication page



A Genetic-Pathophysiological Framework for Craniosynostosis.

American Journal Of Human Genetics
Twigg, Stephen R F SR; Wilkie, Andrew O M AO
Publication Date: 2015-09-03

Variant appearance in text: RUNX2: Y394C
PubMed Link: 26340332
Variant Present in the following documents:
  • Main text
View BVdb publication page