NF1 c.1149C>A ;(p.C383*)

Variant ID: 17-29528141-C-A

NM_001042492.2(NF1):c.1149C>A;(p.C383*)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: NF1: C383*
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Neuronal hyperexcitability drives central and peripheral nervous system tumor progression in models of neurofibromatosis-1.

Nature Communications
Anastasaki, Corina C; Mo, Juan J; Chen, Ji-Kang JK; Chatterjee, Jit J; Pan, Yuan Y; Scheaffer, Suzanne M SM; Cobb, Olivia O; Monje, Michelle M; Le, Lu Q LQ; Gutmann, David H DH
Publication Date: 2022-05-19

Variant appearance in text: NF1: Cys383X
PubMed Link: 35589737
Variant Present in the following documents:
  • 41467_2022_Article_30466.pdf
  • 41467_2022_30466_MOESM1_ESM.pdf
View BVdb publication page



Patient-derived iPSC-cerebral organoid modeling of the 17q11.2 microdeletion syndrome establishes CRLF3 as a critical regulator of neurogenesis.

Cell Reports
Wegscheid, Michelle L ML; Anastasaki, Corina C; Hartigan, Kelly A KA; Cobb, Olivia M OM; Papke, Jason B JB; Traber, Jennifer N JN; Morris, Stephanie M SM; Gutmann, David H DH
Publication Date: 2021-07-06

Variant appearance in text: NF1: 1149C>A
PubMed Link: 34233200
Variant Present in the following documents:
  • Main text
  • NIHMS1722138-supplement-2.pdf
  • nihms-1722138.pdf
  • NIHMS1722138-supplement-1.pdf
View BVdb publication page



Brain tumors in Neurofibromatosis type 1.

Neuro-Oncology Advances
Costa, Amanda De Andrade AA; Gutmann, David H DH
Publication Date: 2019

Variant appearance in text: NF1: Cys383X
PubMed Link: 32642668
Variant Present in the following documents:
  • Main text
  • vdz040.pdf
View BVdb publication page



Human iPSC-Derived Neurons and Cerebral Organoids Establish Differential Effects of Germline NF1 Gene Mutations.

Stem Cell Reports
Anastasaki, Corina C; Wegscheid, Michelle L ML; Hartigan, Kelly K; Papke, Jason B JB; Kopp, Nathan D ND; Chen, Jiayang J; Cobb, Olivia O; Dougherty, Joseph D JD; Gutmann, David H DH
Publication Date: 2020-04-14

Variant appearance in text: NF1: 1149C>A
PubMed Link: 32243842
Variant Present in the following documents:
  • Main text
  • mmc2.pdf
  • main.pdf
View BVdb publication page



Genetic and genomic alterations differentially dictate low-grade glioma growth through cancer stem cell-specific chemokine recruitment of T cells and microglia.

Neuro-Oncology
Guo, Xiaofan X; Pan, Yuan Y; Gutmann, David H DH
Publication Date: 2019-10-09

Variant appearance in text: NF1: 1149C>A; Cys383X
PubMed Link: 31111915
Variant Present in the following documents:
  • Main text
View BVdb publication page



Children with 5'-end NF1 gene mutations are more likely to have glioma.

Neurology. Genetics
Anastasaki, Corina C; Morris, Stephanie M SM; Gao, Feng F; Gutmann, David H DH
Publication Date: 2017-10

Variant appearance in text: NF1: 1149C>A; Cys383X
PubMed Link: 28955729
Variant Present in the following documents:
  • supp_3.5.e192_NG_2017_005934R1_Supplementary_Data.pdf
View BVdb publication page