SI c.2014C>T ;(p.P672S)

Variant ID: 3-164758873-G-A

NM_001041.3(SI):c.2014C>T;(p.P672S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Reprogramming of bivalent chromatin states in NRAS mutant melanoma suggests PRC2 inhibition as a therapeutic strategy.

Cell Reports
Terranova, Christopher J CJ; Tang, Ming M; Maitituoheti, Mayinuer M; Raman, Ayush T AT; Ghosh, Archit K AK; Schulz, Jonathan J; Amin, Samir B SB; Orouji, Elias E; Tomczak, Katarzyna K; Sarkar, Sharmistha S; Oba, Junna J; Creasy, Caitlin C; Wu, Chang-Jiun CJ; Khan, Samia S; Lazcano, Rossana R; Wani, Khalida K; Singh, Anand A; Barrodia, Praveen P; Zhao, Dongyu D; Chen, Kaifu K; Haydu, Lauren E LE; Wang, Wei-Lien WL; Lazar, Alexander J AJ; Woodman, Scott E SE; Bernatchez, Chantale C; Rai, Kunal K
Publication Date: 2021-07-20

Variant appearance in text: SI: P672S
PubMed Link: 34289358
Variant Present in the following documents:
  • NIHMS1727018-supplement-2.xlsx, sheet 2
View BVdb publication page



Mutations in SPAG1 cause primary ciliary dyskinesia associated with defective outer and inner dynein arms.

American Journal Of Human Genetics
Knowles, Michael R MR; Ostrowski, Lawrence E LE; Loges, Niki T NT; Hurd, Toby T; Leigh, Margaret W MW; Huang, Lu L; Wolf, Whitney E WE; Carson, Johnny L JL; Hazucha, Milan J MJ; Yin, Weining W; Davis, Stephanie D SD; Dell, Sharon D SD; Ferkol, Thomas W TW; Sagel, Scott D SD; Olivier, Kenneth N KN; Jahnke, Charlotte C; Olbrich, Heike H; Werner, Claudius C; Raidt, Johanna J; Wallmeier, Julia J; Pennekamp, Petra P; Dougherty, Gerard W GW; Hjeij, Rim R; Gee, Heon Yung HY; Otto, Edgar A EA; Halbritter, Jan J; Chaki, Moumita M; Diaz, Katrina A KA; Braun, Daniela A DA; Porath, Jonathan D JD; Schueler, Markus M; Baktai, György G; Griese, Matthias M; Turner, Emily H EH; Lewis, Alexandra P AP; Bamshad, Michael J MJ; Nickerson, Deborah A DA; Hildebrandt, Friedhelm F; Shendure, Jay J; Omran, Heymut H; Zariwala, Maimoona A MA
Publication Date: 2013-10-03

Variant appearance in text: SI: 2014C>T
PubMed Link: 24055112
Variant Present in the following documents:
  • Main text
View BVdb publication page