HR c.563A>T ;(p.Y188F)

Variant ID: 8-21986121-T-A

NM_005144.4(HR):c.563A>T;(p.Y188F)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


PGRMC2 is an intracellular haem chaperone critical for adipocyte function.

Nature
Galmozzi, Andrea A; Kok, Bernard P BP; Kim, Arthur S AS; Montenegro-Burke, J Rafael JR; Lee, Jae Y JY; Spreafico, Roberto R; Mosure, Sarah S; Albert, Verena V; Cintron-Colon, Rigo R; Godio, Cristina C; Webb, William R WR; Conti, Bruno B; Solt, Laura A LA; Kojetin, Douglas D; Parker, Christopher G CG; Peluso, John J JJ; Pru, James K JK; Siuzdak, Gary G; Cravatt, Benjamin F BF; Saez, Enrique E
Publication Date: 2019-12

Variant appearance in text: HR: Y188F
PubMed Link: 31748741
Variant Present in the following documents:
  • Main text
  • nihms-1540823.pdf
View BVdb publication page