NF1 c.4337T>C ;(p.L1446P)

Variant ID: 17-29586054-T-C

NM_001042492.2(NF1):c.4337T>C;(p.L1446P)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


A scalable high-throughput targeted next-generation sequencing assay for comprehensive genomic profiling of solid tumors.

Plos One
Conroy, Jeffrey M JM; Pabla, Sarabjot S; Glenn, Sean T ST; Seager, R J RJ; Van Roey, Erik E; Gao, Shuang S; Burgher, Blake B; Andreas, Jonathan J; Giamo, Vincent V; Mallon, Melissa M; Lee, Yong Hee YH; DePietro, Paul P; Nesline, Mary M; Wang, Yirong Y; Lenzo, Felicia L FL; Klein, Roger R; Zhang, Shengle S
Publication Date: 2021

Variant appearance in text: NF1: 4337T>C; L1446P
PubMed Link: 34855780
Variant Present in the following documents:
  • pone.0260089.s001.xlsx, sheet 12
View BVdb publication page



A scalable high-throughput targeted next-generation sequencing assay for comprehensive genomic profiling of solid tumors.

Plos One
Conroy, Jeffrey M JM; Pabla, Sarabjot S; Glenn, Sean T ST; Seager, R J RJ; Van Roey, Erik E; Gao, Shuang S; Burgher, Blake B; Andreas, Jonathan J; Giamo, Vincent V; Mallon, Melissa M; Lee, Yong Hee YH; DePietro, Paul P; Nesline, Mary M; Wang, Yirong Y; Lenzo, Felicia L FL; Klein, Roger R; Zhang, Shengle S
Publication Date: 2021

Variant appearance in text: NF1: 4337T>C; L1446P
PubMed Link: 34855780
Variant Present in the following documents:
  • pone.0260089.s001.xlsx, sheet 12
View BVdb publication page



Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics
Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G
Publication Date: 2019-10

Variant appearance in text: NF1: 4337T>C; Leu1446Pro
PubMed Link: 30981987
Variant Present in the following documents:
  • jmedgenet-2018-105825supp002.xlsx, sheet 5
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: NF1: L1446P; rs199474733
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Structure-energy-based predictions and network modelling of RASopathy and cancer missense mutations.

Molecular Systems Biology
Kiel, Christina C; Serrano, Luis L
Publication Date: 2014-05-06

Variant appearance in text: NF1: L1446P
PubMed Link: 24803665
Variant Present in the following documents:
  • MSB-10-5-727-s13.xls, sheet 1
View BVdb publication page