RUNX2 c.1228C>T ;(p.L410F)

Variant ID: 6-45514704-C-T

NM_001024630.3(RUNX2):c.1228C>T;(p.L410F)

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:

Motor domain-mediated autoinhibition dictates axonal transport by the kinesin UNC-104/KIF1A.

Plos Genetics
Cong, Dezi D; Ren, Jinqi J; Zhou, Yurong Y; Wang, Shuang S; Liang, Jingjing J; Ding, Mei M; Feng, Wei W
Publication Date: 2021-11

Variant appearance in text: CCD: L410F
PubMed Link: 34843479
Variant Present in the following documents:
  • Main text
  • pgen.1009940.pdf
View BVdb publication page


Motor domain-mediated autoinhibition dictates axonal transport by the kinesin UNC-104/KIF1A.

Plos Genetics
Cong, Dezi D; Ren, Jinqi J; Zhou, Yurong Y; Wang, Shuang S; Liang, Jingjing J; Ding, Mei M; Feng, Wei W
Publication Date: 2021-11

Variant appearance in text: CCD: L410F
PubMed Link: 34843479
Variant Present in the following documents:
  • Main text
  • pgen.1009940.pdf
View BVdb publication page