NF1 c.3847_3848delinsGC ;(p.K1283A)

Variant ID: 17-29562767-AA-GC

NM_001042492.2(NF1):c.3847_3848delinsGC;(p.K1283A)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

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: K1283A
PubMed Link: 32697994
Variant Present in the following documents:
  • Main text
  • nihms-1613940.pdf
View BVdb publication page