NF1 c.1391C>T ;(p.P464L)

Variant ID: 17-29533388-C-T

NM_001042492.2(NF1):c.1391C>T;(p.P464L)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: NF1: P464L
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: NF1: P464L
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Assessment of risk based on variant pathways and establishment of an artificial neural network model of thyroid cancer.

Bmc Medical Genetics
Zhao, Yinlong Y; Zhao, Lingzhi L; Mao, Tiezhu T; Zhong, Lili L
Publication Date: 2019-05-28

Variant appearance in text: NF1: P464L
PubMed Link: 31138213
Variant Present in the following documents:
  • 12881_2019_829_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

The Journal Of Molecular Diagnostics : Jmd
Clark, Travis A TA; Chung, Jon H JH; Kennedy, Mark M; Hughes, Jason D JD; Chennagiri, Niru N; Lieber, Daniel S DS; Fendler, Bernard B; Young, Lauren L; Zhao, Mandy M; Coyne, Michael M; Breese, Virginia V; Young, Geneva G; Donahue, Amy A; Pavlick, Dean D; Tsiros, Alyssa A; Brennan, Timothy T; Zhong, Shan S; Mughal, Tariq T; Bailey, Mark M; He, Jie J; Roels, Steven S; Frampton, Garrett M GM; Spoerke, Jill M JM; Gendreau, Steven S; Lackner, Mark M; Schleifman, Erica E; Peters, Eric E; Ross, Jeffrey S JS; Ali, Siraj M SM; Miller, Vincent A VA; Gregg, Jeffrey P JP; Stephens, Philip J PJ; Welsh, Allison A; Otto, Geoff A GA; Lipson, Doron D
Publication Date: 2018-09

Variant appearance in text: NF1: P464L
PubMed Link: 29936259
Variant Present in the following documents:
  • mmc12.xlsx, sheet 1
View BVdb publication page



EBV-Negative Monomorphic B-Cell Posttransplant Lymphoproliferative Disorder with Marked Morphologic Pleomorphism and Pathogenic Mutations in ASXL1, BCOR, CDKN2A, NF1, and TP53.

Case Reports In Hematology
Bogusz, Agata M AM
Publication Date: 2017

Variant appearance in text: NF1: P464L
PubMed Link: 28487787
Variant Present in the following documents:
  • Main text
  • CRIHEM2017-5083463.pdf
View BVdb publication page



Exome sequencing identifies early gastric carcinoma as an early stage of advanced gastric cancer.

Plos One
Kang, Guhyun G; Hwang, Woo Cheol WC; Do, In-Gu IG; Wang, Kai K; Kang, So Young SY; Lee, Jeeyun J; Park, Se Hoon SH; Park, Joon Oh JO; Kang, Won Ki WK; Jang, Jiryeon J; Choi, Min-Gew MG; Lee, Jun Ho JH; Sohn, Tae Sung TS; Bae, Jae Moon JM; Kim, Sung S; Kim, Min Ji MJ; Kim, Seonwoo S; Park, Cheol Keun CK; Kim, Kyoung-Mee KM
Publication Date: 2013

Variant appearance in text: NF1: 1391C>T; P464L
PubMed Link: 24376576
Variant Present in the following documents:
  • pone.0082770.s002.xls, sheet 1
View BVdb publication page