NF1 c.6725C>T ;(p.P2242L)

Variant ID: 17-29665063-C-T

NM_001042492.2(NF1):c.6725C>T;(p.P2242L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Clinical significance of stromal ER and PR expression in periampullary adenocarcinoma.

Biomarker Research
Andersson, Gustav G; Lundgren, Sebastian S; Heby, Margareta M; Nodin, Björn B; Elebro, Jacob J; Jirström, Karin K
Publication Date: 2019

Variant appearance in text: NF1: 6725C>T; Pro2242Leu
PubMed Link: 31827798
Variant Present in the following documents:
  • 40364_2019_176_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



A Preexisting Rare PIK3CAE545K Subpopulation Confers Clinical Resistance to MEK plus CDK4/6 Inhibition in NRAS Melanoma and Is Dependent on S6K1 Signaling.

Cancer Discovery
Romano, Gabriele G; Chen, Pei-Ling PL; Song, Ping P; McQuade, Jennifer L JL; Liang, Roger J RJ; Liu, Mingguang M; Roh, Whijae W; Duose, Dzifa Y DY; Carapeto, Fernando C L FCL; Li, Jun J; Teh, Jessica L F JLF; Aplin, Andrew E AE; Chen, Merry M; Zhang, Jianhua J; Lazar, Alexander J AJ; Davies, Michael A MA; Futreal, P Andrew PA; Amaria, Rodabe N RN; Zhang, David Y DY; Wargo, Jennifer A JA; Kwong, Lawrence N LN
Publication Date: 2018-05

Variant appearance in text: NF1: P2242L
PubMed Link: 29496665
Variant Present in the following documents:
  • Main text
View BVdb publication page