F2 c.467T>G ;(p.F156C)

Variant ID: 11-46744976-T-G

NM_000506.3(F2):c.467T>G;(p.F156C)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Lacrimo-auriculo-dento-digital syndrome: A novel mutation in a Korean family and review of literature.

Molecular Genetics & Genomic Medicine
Ryu, Young Hye YH; Kyun Chae, Jong J; Kim, Jung-Wook JW; Lee, Soyoung S
Publication Date: 2020-10

Variant appearance in text: F2: 467T>G
PubMed Link: 32715658
Variant Present in the following documents:
  • MGG3-8-e1412.pdf
View BVdb publication page



VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P(2) in yeast and mouse.

The Embo Journal
Jin, Natsuko N; Chow, Clement Y CY; Liu, Li L; Zolov, Sergey N SN; Bronson, Roderick R; Davisson, Muriel M; Petersen, Jason L JL; Zhang, Yanling Y; Park, Sujin S; Duex, Jason E JE; Goldowitz, Daniel D; Meisler, Miriam H MH; Weisman, Lois S LS
Publication Date: 2008-12-17

Variant appearance in text: F2: 467T>G
PubMed Link: 19037259
Variant Present in the following documents:
  • Main text
View BVdb publication page