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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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