NF1 c.40G>A ;(p.V14I)

Variant ID: 17-29422367-G-A

NM_001042492.2(NF1):c.40G>A;(p.V14I)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Beyond Structural Bioinformatics for Genomics with Dynamics Characterization of an Expanded KRAS Mutational Landscape.

Biorxiv : The Preprint Server For Biology
Ratnasinghe, Brian D BD; Haque, Neshatul N; Wagenknecht, Jessica B JB; Jensen, Davin R DR; Esparza, Guadalupe V GV; Leverence, Elise N EN; De Assuncao, Thiago Milech TM; Mathison, Angela J AJ; Lomberk, Gwen G; Smith, Brian C BC; Volkman, Brian F BF; Urrutia, Raul R; Zimmermann, Michael T MT
Publication Date: 2023-04-28

Variant appearance in text: NF1: V14I
PubMed Link: 37207265
Variant Present in the following documents:
  • Main text
View BVdb publication page



Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: NF1: 40G>A
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



The RASopathies: from pathogenetics to therapeutics.

Disease Models & Mechanisms
Hebron, Katie E KE; Hernandez, Edjay Ralph ER; Yohe, Marielle E ME
Publication Date: 2022-02-01

Variant appearance in text: NF1: V14I
PubMed Link: 35178568
Variant Present in the following documents:
  • Main text
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: NF1: 40G>A
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies.

American Journal Of Medical Genetics. Part A
Gross, Andrea M AM; Frone, Megan M; Gripp, Karen W KW; Gelb, Bruce D BD; Schoyer, Lisa L; Schill, Lisa L; Stronach, Beth B; Biesecker, Leslie G LG; Esposito, Dominic D; Hernandez, Edjay Ralph ER; Legius, Eric E; Loh, Mignon L ML; Martin, Staci S; Morrison, Deborah K DK; Rauen, Katherine A KA; Wolters, Pamela L PL; Zand, Dina D; McCormick, Frank F; Savage, Sharon A SA; Stewart, Douglas R DR; Widemann, Brigitte C BC; Yohe, Marielle E ME
Publication Date: 2020-04

Variant appearance in text: NF1: V14I
PubMed Link: 31913576
Variant Present in the following documents:
  • Main text
View BVdb publication page



High-intensity sequencing reveals the sources of plasma circulating cell-free DNA variants.

Nature Medicine
Razavi, Pedram P; Li, Bob T BT; Brown, David N DN; Jung, Byoungsok B; Hubbell, Earl E; Shen, Ronglai R; Abida, Wassim W; Juluru, Krishna K; De Bruijn, Ino I; Hou, Chenlu C; Venn, Oliver O; Lim, Raymond R; Anand, Aseem A; Maddala, Tara T; Gnerre, Sante S; Vijaya Satya, Ravi R; Liu, Qinwen Q; Shen, Ling L; Eattock, Nicholas N; Yue, Jeanne J; Blocker, Alexander W AW; Lee, Mark M; Sehnert, Amy A; Xu, Hui H; Hall, Megan P MP; Santiago-Zayas, Angie A; Novotny, William F WF; Isbell, James M JM; Rusch, Valerie W VW; Plitas, George G; Heerdt, Alexandra S AS; Ladanyi, Marc M; Hyman, David M DM; Jones, David R DR; Morrow, Monica M; Riely, Gregory J GJ; Scher, Howard I HI; Rudin, Charles M CM; Robson, Mark E ME; Diaz, Luis A LA; Solit, David B DB; Aravanis, Alexander M AM; Reis-Filho, Jorge S JS
Publication Date: 2019-12

Variant appearance in text: NF1: Val14Ile
PubMed Link: 31768066
Variant Present in the following documents:
  • NIHMS1541314-supplement-1541314_Sup_Tab.xlsx, sheet 4
View BVdb publication page



Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas.

Cell Reports
Way, Gregory P GP; Sanchez-Vega, Francisco F; La, Konnor K; Armenia, Joshua J; Chatila, Walid K WK; Luna, Augustin A; Sander, Chris C; Cherniack, Andrew D AD; Mina, Marco M; Ciriello, Giovanni G; Schultz, Nikolaus N; , ; Sanchez, Yolanda Y; Greene, Casey S CS
Publication Date: 2018-04-03

Variant appearance in text: NF1: 40G>A
PubMed Link: 29617658
Variant Present in the following documents:
  • NIHMS958974-supplement-5.xlsx, sheet 1
  • NIHMS958974-supplement-6.xlsx, sheet 1
View BVdb publication page



Mek1Y130C mice recapitulate aspects of human cardio-facio-cutaneous syndrome.

Disease Models & Mechanisms
Aoidi, Rifdat R; Houde, Nicolas N; Landry-Truchon, Kim K; Holter, Michael M; Jacquet, Kevin K; Charron, Louis L; Krishnaswami, Suguna Rani SR; Yu, Benjamin D BD; Rauen, Katherine A KA; Bisson, Nicolas N; Newbern, Jason J; Charron, Jean J
Publication Date: 2018-03-13

Variant appearance in text: NF1: V14I
PubMed Link: 29590634
Variant Present in the following documents:
  • Main text
View BVdb publication page