OCA2 c.2364G>T ;(p.S788=)

Variant ID: 15-28090173-C-A

NM_000275.2(OCA2):c.2364G>T;(p.S788=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Oncotarget
Kürschner, Gerrit G; Zhang, Qingzhou Q; Clima, Rosanna R; Xiao, Yi Y; Busch, Jonas Felix JF; Kilic, Ergin E; Jung, Klaus K; Berndt, Nikolaus N; Bulik, Sascha S; Holzhütter, Hermann-Georg HG; Gasparre, Giuseppe G; Attimonelli, Marcella M; Babu, Mohan M; Meierhofer, David D
Publication Date: 2017-12-01

Variant appearance in text: OCA2: S788S
PubMed Link: 29285300
Variant Present in the following documents:
  • oncotarget-08-105882-s002.xlsx, sheet 1
View BVdb publication page