NF1 c.3826_3827delinsGC ;(p.R1276A)

Variant ID: 17-29562746-CG-GC

NM_001042492.2(NF1):c.3826_3827delinsGC;(p.R1276A)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Structural Insights into the SPRED1-Neurofibromin-KRAS Complex and Disruption of SPRED1-Neurofibromin Interaction by Oncogenic EGFR.

Cell Reports
Yan, Wupeng W; Markegard, Evan E; Dharmaiah, Srisathiyanarayanan S; Urisman, Anatoly A; Drew, Matthew M; Esposito, Dominic D; Scheffzek, Klaus K; Nissley, Dwight V DV; McCormick, Frank F; Simanshu, Dhirendra K DK
Publication Date: 2020-07-21

Variant appearance in text: NF1: R1276A
PubMed Link: 32697994
Variant Present in the following documents:
  • Main text
  • nihms-1613940.pdf
View BVdb publication page



Cooperation between Noncanonical Ras Network Mutations.

Cell Reports
Stites, Edward C EC; Trampont, Paul C PC; Haney, Lisa B LB; Walk, Scott F SF; Ravichandran, Kodi S KS
Publication Date: 2015-01-20

Variant appearance in text: NF1: R1276A
PubMed Link: 25600866
Variant Present in the following documents:
  • Main text
View BVdb publication page



Transition state structures and the roles of catalytic residues in GAP-facilitated GTPase of Ras as elucidated by (18)O kinetic isotope effects.

Biochemistry
Du, Xinlin X; Sprang, Stephen R SR
Publication Date: 2009-06-02

Variant appearance in text: NF1: R1276A
PubMed Link: 19610677
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reduced growth of Drosophila neurofibromatosis 1 mutants reflects a non-cell-autonomous requirement for GTPase-Activating Protein activity in larval neurons.

Genes & Development
Walker, James A JA; Tchoudakova, Anna V AV; McKenney, Peter T PT; Brill, Suzanne S; Wu, Dongyun D; Cowley, Glenn S GS; Hariharan, Iswar K IK; Bernards, André A
Publication Date: 2006-12-01

Variant appearance in text: NF1: R1276A
PubMed Link: 17114577
Variant Present in the following documents:
  • Main text
View BVdb publication page