SLC45A2 c.1430C>T ;(p.A477V)

Variant ID: 5-33944916-G-A

NM_016180.3(SLC45A2):c.1430C>T;(p.A477V)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08

Variant appearance in text: SLC45A2: 1430C>T; Ala477Val
PubMed Link: 36755093
Variant Present in the following documents:
  • 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Membrane transport proteins in melanosomes: Regulation of ions for pigmentation.

Biochimica Et Biophysica Acta. Biomembranes
Wiriyasermkul, Pattama P; Moriyama, Satomi S; Nagamori, Shushi S
Publication Date: 2020-12-01

Variant appearance in text: SLC45A2: A477V
PubMed Link: 32333855
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



The genetics of tiger pelage color variations.

Cell Research
Xu, Xiao X; Dong, Gui-Xin GX; Schmidt-Küntzel, Anne A; Zhang, Xue-Li XL; Zhuang, Yan Y; Fang, Run R; Sun, Xin X; Hu, Xue-Song XS; Zhang, Tian-You TY; Yang, Han-Dong HD; Zhang, De-Lu DL; Marker, Laurie L; Jiang, Zheng-Fan ZF; Li, Ruiqiang R; Luo, Shu-Jin SJ
Publication Date: 2017-07

Variant appearance in text: SLC45A2: A477V
PubMed Link: 28281538
Variant Present in the following documents:
  • Main text
View BVdb publication page