NF1 c.436_437delinsTT ;(p.S146F)

Variant ID: 17-29490351-AG-TT

NM_001042492.2(NF1):c.436_437delinsTT;(p.S146F)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Unique evolutionary trajectories of breast cancers with distinct genomic and spatial heterogeneity.

Scientific Reports
Phung, Tanya N TN; Webster, Timothy H TH; Lenkiewicz, Elizabeth E; Malasi, Smriti S; Andreozzi, Mariacarla M; McCullough, Ann E AE; Anderson, Karen S KS; Pockaj, Barbara A BA; Wilson, Melissa A MA; Barrett, Michael T MT
Publication Date: 2021-05-19

Variant appearance in text: NF1: S146F
PubMed Link: 34011996
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_90170.pdf
View BVdb publication page



Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy.

Nature Genetics
Balbás-Martínez, Cristina C; Sagrera, Ana A; Carrillo-de-Santa-Pau, Enrique E; Earl, Julie J; Márquez, Mirari M; Vazquez, Miguel M; Lapi, Eleonora E; Castro-Giner, Francesc F; Beltran, Sergi S; Bayés, Mònica M; Carrato, Alfredo A; Cigudosa, Juan C JC; Domínguez, Orlando O; Gut, Marta M; Herranz, Jesús J; Juanpere, Núria N; Kogevinas, Manolis M; Langa, Xavier X; López-Knowles, Elena E; Lorente, José A JA; Lloreta, Josep J; Pisano, David G DG; Richart, Laia L; Rico, Daniel D; Salgado, Rocío N RN; Tardón, Adonina A; Chanock, Stephen S; Heath, Simon S; Valencia, Alfonso A; Losada, Ana A; Gut, Ivo I; Malats, Núria N; Real, Francisco X FX
Publication Date: 2013-12

Variant appearance in text: NF1: S146F
PubMed Link: 24121791
Variant Present in the following documents:
  • NIHMS525200-supplement-2.xls, sheet 1
View BVdb publication page



Melanoma genome sequencing reveals frequent PREX2 mutations.

Nature
Berger, Michael F MF; Hodis, Eran E; Heffernan, Timothy P TP; Deribe, Yonathan Lissanu YL; Lawrence, Michael S MS; Protopopov, Alexei A; Ivanova, Elena E; Watson, Ian R IR; Nickerson, Elizabeth E; Ghosh, Papia P; Zhang, Hailei H; Zeid, Rhamy R; Ren, Xiaojia X; Cibulskis, Kristian K; Sivachenko, Andrey Y AY; Wagle, Nikhil N; Sucker, Antje A; Sougnez, Carrie C; Onofrio, Robert R; Ambrogio, Lauren L; Auclair, Daniel D; Fennell, Timothy T; Carter, Scott L SL; Drier, Yotam Y; Stojanov, Petar P; Singer, Meredith A MA; Voet, Douglas D; Jing, Rui R; Saksena, Gordon G; Barretina, Jordi J; Ramos, Alex H AH; Pugh, Trevor J TJ; Stransky, Nicolas N; Parkin, Melissa M; Winckler, Wendy W; Mahan, Scott S; Ardlie, Kristin K; Baldwin, Jennifer J; Wargo, Jennifer J; Schadendorf, Dirk D; Meyerson, Matthew M; Gabriel, Stacey B SB; Golub, Todd R TR; Wagner, Stephan N SN; Lander, Eric S ES; Getz, Gad G; Chin, Lynda L; Garraway, Levi A LA
Publication Date: 2012-05-09

Variant appearance in text: NF1: S146F
PubMed Link: 22622578
Variant Present in the following documents:
  • NIHMS362881-supplement-3.xlsx, sheet 5
View BVdb publication page