OCA2 c.205G>T ;(p.A69S)

Variant ID: 15-28326816-C-A

NM_000275.2(OCA2):c.205G>T;(p.A69S)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Systematic prediction of degrons and E3 ubiquitin ligase binding via deep learning.

Bmc Biology
Hou, Chao C; Li, Yuxuan Y; Wang, Mengyao M; Wu, Hong H; Li, Tingting T
Publication Date: 2022-07-14

Variant appearance in text: D15S12: A69S
PubMed Link: 35836176
Variant Present in the following documents:
  • 12915_2022_1364_MOESM6_ESM.xlsx, sheet 3
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: OCA2: A69S
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Meta-analysis of 542,934 subjects of European ancestry identifies new genes and mechanisms predisposing to refractive error and myopia.

Nature Genetics
Hysi, Pirro G PG; Choquet, Hélène H; Khawaja, Anthony P AP; Wojciechowski, Robert R; Tedja, Milly S MS; Yin, Jie J; Simcoe, Mark J MJ; Patasova, Karina K; Mahroo, Omar A OA; Thai, Khanh K KK; Cumberland, Phillippa M PM; Melles, Ronald B RB; Verhoeven, Virginie J M VJM; Vitart, Veronique V; Segre, Ayellet A; Stone, Richard A RA; Wareham, Nick N; Hewitt, Alex W AW; Mackey, David A DA; Klaver, Caroline C W CCW; MacGregor, Stuart S; , ; Khaw, Peng T PT; Foster, Paul J PJ; , ; Guggenheim, Jeremy A JA; , ; Rahi, Jugnoo S JS; Jorgenson, Eric E; Hammond, Christopher J CJ
Publication Date: 2020-04

Variant appearance in text: OCA2: Ala69Ser
PubMed Link: 32231278
Variant Present in the following documents:
  • Main text
  • EMS85881.pdf
View BVdb publication page