NF1 c.3623T>G ;(p.L1208W)

Variant ID: 17-29560146-T-G

NM_001042492.2(NF1):c.3623T>G;(p.L1208W)

This variant was identified in 2 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: L1208W
PubMed Link: 32697994
Variant Present in the following documents:
  • Main text
  • nihms-1613940.pdf
View BVdb publication page



Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.

The Journal Of Biological Chemistry
Hirata, Yasuko Y; Brems, Hilde H; Suzuki, Mayu M; Kanamori, Mitsuhiro M; Okada, Masahiro M; Morita, Rimpei R; Llano-Rivas, Isabel I; Ose, Toyoyuki T; Messiaen, Ludwine L; Legius, Eric E; Yoshimura, Akihiko A
Publication Date: 2016-02-12

Variant appearance in text: NF1: L1208W
PubMed Link: 26635368
Variant Present in the following documents:
  • Main text
View BVdb publication page