SLC14A2 c.541C>T ;(p.L181F)

Variant ID: 18-43212334-C-T

NM_007163.3(SLC14A2):c.541C>T;(p.L181F)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


ALPK1 hotspot mutation as a driver of human spiradenoma and spiradenocarcinoma.

Nature Communications
Rashid, Mamunur M; van der Horst, Michiel M; Mentzel, Thomas T; Butera, Francesca F; Ferreira, Ingrid I; Pance, Alena A; Rütten, Arno A; Luzar, Bostjan B; Marusic, Zlatko Z; de Saint Aubain, Nicolas N; Ko, Jennifer S JS; Billings, Steven D SD; Chen, Sofia S; Abi Daoud, Marie M; Hewinson, James J; Louzada, Sandra S; Harms, Paul W PW; Cerretelli, Guia G; Robles-Espinoza, Carla Daniela CD; Patel, Rajiv M RM; van der Weyden, Louise L; Bakal, Chris C; Hornick, Jason L JL; Arends, Mark J MJ; Brenn, Thomas T; Adams, David J DJ
Publication Date: 2019-05-17

Variant appearance in text: SLC14A2: 541C>T; Leu181Phe
PubMed Link: 31101826
Variant Present in the following documents:
  • 41467_2019_9979_MOESM5_ESM.xlsx, sheet 5
View BVdb publication page