SLC45A2 c.298G>A ;(p.G100S)

Variant ID: 5-33984391-C-T

NM_016180.3(SLC45A2):c.298G>A;(p.G100S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Epigenetic priming in chronic liver disease impacts the transcriptional and genetic landscapes of hepatocellular carcinoma.

Molecular Oncology
Gallon, John J; Coto-Llerena, Mairene M; Ercan, Caner C; Bianco, Gaia G; Paradiso, Viola V; Nuciforo, Sandro S; Taha-Melitz, Stephanie S; Meier, Marie-Anne MA; Boldanova, Tujana T; Pérez-Del-Pulgar, Sofía S; Rodríguez-Tajes, Sergio S; von Flüe, Markus M; Soysal, Savas D SD; Kollmar, Otto O; Llovet, Josep M JM; Villanueva, Augusto A; Terracciano, Luigi M LM; Heim, Markus H MH; Ng, Charlotte K Y CKY; Piscuoglio, Salvatore S
Publication Date: 2022-02

Variant appearance in text: SLC45A2: 298G>A; Gly100Ser
PubMed Link: 34863035
Variant Present in the following documents:
  • MOL2-16-665-s001.xlsx, sheet 5
View BVdb publication page



Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.

The Journal Of Investigative Dermatology
Hutton, Saunie M SM; Spritz, Richard A RA
Publication Date: 2008-10

Variant appearance in text: OCA4: 298G>A
PubMed Link: 18463683
Variant Present in the following documents:
  • Main text
View BVdb publication page